P. Kishnani

D. Wallace, T. Young, L. Enyedi, 2010, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Systemic oxidative stress, as measured by urinary allantoin and F(2)-isoprostanes, is not increased in Down syndrome.

Peter M. Scarbrough, D. Millington, D. Il'yasova, 2012, Annals of epidemiology.

Newborn Screening for Pompe Disease: Synthesis of the Evidence and Development of Screening Recommendations

W. Hwu, A. Kemper, P. Kishnani, 2007, Pediatrics.

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

M. Tarnopolsky, Y. Chien, J. Charrow, 2021, The Lancet Neurology.

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort

B. Byrne, S. Colan, D. Stockton, 2021, Cardiology in the Young.

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study

D. Stockton, M. Gambello, N. Leslie, 2018, Genetics in Medicine.

Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry

K. Ozono, P. Kishnani, A. Linglart, 2022, Orphanet Journal of Rare Diseases.

Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.

C. Rehder, D. Bali, P. Kishnani, 2017, JIMD reports.

Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience

C. Rehder, D. Bali, P. Kishnani, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Small-Fiber Neuropathy in Pompe Disease: First Reported Cases and Prospective Screening of a Clinic Cohort

L. Hobson‐Webb, P. Kishnani, L. Case, 2015, The American journal of case reports.

Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

D. Bali, P. Kishnani, S. Austin, 2022, Molecular genetics and metabolism reports.

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

B. Byrne, A. Pestronk, M. Tarnopolsky, 2021, The Lancet Neurology.

The impact of antibodies in late-onset Pompe disease: a case series and literature review.

B. Schoser, S. Wenninger, P. Kishnani, 2012, Molecular genetics and metabolism.

Emerging therapies for glycogen storage disease type I

D. Bali, D. Koeberl, P. Kishnani, 2009, Trends in Endocrinology & Metabolism.

Premature pubarche in children with Pompe disease.

Q. K. Tan, D. Stockton, E. Pivnick, 2015, The Journal of pediatrics.

Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease

B. Byrne, P. van Damme, R. Barohn, 2022, Neurology.

Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia.

F. Rauch, M. Whyte, P. Kishnani, 2019, Bone.

Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction.

Yow-Ming C Wang, Anne R. Pariser, J. Bluestone, 2016, Molecular Genetics and Metabolism.

Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy

P. Smith, Jennifer S. Li, P. Kishnani, 2011, Genetics in Medicine.

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

B. Byrne, D. Stockton, M. Boentert, 2020, Journal of Neurology.

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Yuan-Tsong Chen, Jer-Yuarn Wu, J. Wu, 1996, The Journal of clinical investigation.

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature

M. ElMallah, K. Zimmerman, P. Kishnani, 2020, Genetics in Medicine.

Pulmonary outcome measures in long‐term survivors of infantile Pompe disease on enzyme replacement therapy: A case series

M. ElMallah, R. Kravitz, P. Kishnani, 2020, Pediatric pulmonology.

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease

S. Packman, O. Abdul-Rahman, P. Tanpaiboon, 2018, Genetics in Medicine.

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.

P. Kishnani, L. Case, J. Coats, 2017, Molecular genetics and metabolism.

High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient.

A. Rosenberg, P. Kishnani, Ankit K. Desai, 2017, Molecular genetics and metabolism.

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

W. Hwu, K. Swoboda, T. Okuyama, 2017, Pediatrics.

Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses.

D. Stockton, D. Viskochil, A. Rosenberg, 2016, JCI insight.

Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT

J. Charrow, C. Rehder, P. Chakraborty, 2013, PloS one.

Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease

D. Viskochil, A. Rosenberg, P. Kishnani, 2012, Genetics in Medicine.

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa.

A. Pestronk, J. Charrow, H. Plotkin, 2012, Molecular genetics and metabolism.

Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells.

J. Charrow, A. Rosenberg, A. Amalfitano, 2012, Molecular genetics and metabolism.

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

D. Dimmock, D. Bali, A. Rosenberg, 2012, Genetics in Medicine.

CHINESE HAMSTER OVARY CELL-DERIVED RECOMBINANT HUMAN ACID α -GLUCOSIDASE IN INFANTILE-ONSET POMPE DISEASE

G. Herman, T. Voit, A. Amalfitano, 2009 .

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.

D. Bali, D. Koeberl, P. Kishnani, 2008, Molecular genetics and metabolism.

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker

D. Millington, D. Bali, B. Thurberg, 2009, Genetics in Medicine.

Natural Progression of Canine Glycogen Storage Disease Type IIIa.

J. Fyfe, B. Thurberg, P. Kishnani, 2016, Comparative medicine.

The electrodiagnostic characteristics of Glycogen Storage Disease Type III

D. Bali, L. Hobson‐Webb, P. Kishnani, 2010, Genetics in Medicine.

Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu[UUR] gene

S. Kahler, E. Bossen, P. Kishnani, 1996, European Journal of Pediatrics.

Electrocardiographic response to enzyme replacement therapy for Pompe disease

S. Idriss, E. Nozik-Grayck, Jennifer S. Li, 2006, Genetics in Medicine.

Cardiac Remodeling After Enzyme Replacement Therapy with Acid α-Glucosidase for Infants with Pompe Disease

Jennifer S. Li, J. Levine, P. Kishnani, 2008, Pediatric Cardiology.

AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia.

Yuan-Tsong Chen, Songtao Li, D. Koeberl, 2008, Molecular therapy : the journal of the American Society of Gene Therapy.

What’s new and what’s next for gene therapy in Pompe disease?

M. ElMallah, P. Kishnani, Debolina D. Biswas, 2022, Expert opinion on biological therapy.

Non-depleting anti-CD4 monoclonal antibody induces immune tolerance to ERT in a murine model of Pompe disease

H. Waldmann, A. Rosenberg, A. D. de Fougerolles, 2014, Molecular genetics and metabolism reports.

Enzyme-deficiency metabolic cardiomyopathies and the role of enzyme replacement therapy

Jennifer S. Li, P. Kishnani, Stephanie BurnsWechsler, 2007 .

Training, detraining, and retraining: Two 12-week respiratory muscle training regimens in a child with infantile-onset Pompe disease.

R. Kravitz, P. Kishnani, L. Case, 2020, Journal of pediatric rehabilitation medicine.

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.

P. Kishnani, L. Case, S. Austin, 2019, Molecular genetics and metabolism.

Nephrotic Syndrome Complicating α-Glucosidase Replacement Therapy for Pompe Disease

J. Phillips, Yuan-Tsong Chen, A. Fogo, 2004, Pediatrics.

Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia.

B. Clary, D. Koeberl, P. Kishnani, 2007, Journal of hepatology.

DOWN SYNDROME

Sarah J. Hart, G. Spiridigliozzi, P. Kishnani, 2020, Cassidy and Allanson's Management of Genetic Syndromes.

Safety and efficacy of rivastigmine in adolescents with Down syndrome: long-term follow-up.

J. A. McKillop, G. Spiridigliozzi, P. Kishnani, 2010, Journal of child and adolescent psychopharmacology.

Donepezil effects on language in children with Down syndrome: Results of the first 22‐week pilot clinical trial

P. Doraiswamy, G. Spiridigliozzi, P. Kishnani, 2004, American journal of medical genetics. Part A.

The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome

B. Seltzer, T. McRae, G. Capone, 2009, American journal of medical genetics. Part A.

Characterization of a canine model of glycogen storage disease type IIIa

J. Fyfe, D. Koeberl, B. Thurberg, 2012, Disease Models & Mechanisms.

Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib

D. A. Weinstein, P. Kishnani, S. Austin, 2012, Genetics in Medicine.

Clinical trial of L‐Carnitine and valproic acid in spinal muscular atrophy type I

M. Schroth, T. Crawford, B. Wirth, 2018, Muscle & nerve.

Cholinergic therapy for Down's syndrome

K. Krishnan, P. Doraiswamy, G. Spiridigliozzi, 1999, The Lancet.

The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management

P. Kishnani, N. Mendelsohn, A. Beckemeyer, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial

J. Charrow, J. Phillips, Yuan-Tsong Chen, 2001, Genetics in Medicine.

Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors

Yuan-Tsong Chen, D. Koeberl, P. Kishnani, 2002, Gene Therapy.

Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement

L. Hobson‐Webb, P. Kishnani, Harrison N. Jones, 2013, Neuromuscular Disorders.

A pilot study on using rapamycin-carrying synthetic vaccine particles (SVP) in conjunction with enzyme replacement therapy to induce immune tolerance in Pompe disease

Fengqin Gao, T. Kishimoto, P. Kishnani, 2017, Molecular genetics and metabolism reports.

Starch Binding Domain-containing Protein 1 Plays a Dominant Role in Glycogen Transport to Lysosomes in Liver*

P. Kishnani, H. Yi, Tao Sun, 2016, The Journal of Biological Chemistry.

A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV.

P. Kishnani, H. Yi, Chunyu Yang, 2016, JIMD reports.

diseasemuscle fibers from a mouse model of Pompe Impaired organization and function of myofilaments in

Chad H. Koonce, Brent E. White, J. Thomson, 2015 .

Dysregulation of Multiple Facets of Glycogen Metabolism in a Murine Model of Pompe Disease

R. Scheule, K. Taylor, E. Meyers, 2013, PloS one.

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort

D. Stockton, N. Leslie, P. Tanpaiboon, 2022, Journal of neuromuscular diseases.

A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation

P. Kishnani, R. Spiegel, S. Curelaru, 2022, Molecular genetics and metabolism reports.

A Race Against Time—Changing the Natural History of CRIM Negative Infantile Pompe Disease

P. Kishnani, Fuad M. Kiblawi, D. Myridakis, 2020, Frontiers in Immunology.

Behavioral, social and school functioning in children with Pompe disease

G. Spiridigliozzi, P. Kishnani, S. Austin, 2020, Molecular genetics and metabolism reports.

Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.

M. Kabra, C. Rehder, S. Nampoothiri, 2019, The Journal of pediatrics.

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

D. Stockton, M. Gambello, N. Leslie, 2019, Genetics in Medicine.

Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy

D. Bali, P. Kishnani, Ankit K. Desai, 2019, Molecular genetics and metabolism reports.

Hepatic Manifestations in Glycogen Storage Disease Type III

P. Kishnani, S. Austin, Baodong Sun, 2018, Current Pathobiology Reports.

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.

P. Kishnani, Heidi Cope, Stephanie M Dearmey, 2017, Molecular genetics and metabolism.

Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.

D. Frush, L. Hobson‐Webb, P. Kishnani, 2016, Molecular genetics and metabolism.

Immunomodulatory, liver depot gene therapy for Pompe disease.

D. Koeberl, P. Kishnani, J. Bond, 2017, Cellular immunology.

Response to de Vries et al.

A. Rosenberg, S. Richards, P. Kishnani, 2017, Genetics in Medicine.

Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers

M. Gambello, P. Kishnani, E. Lisi, 2015, Molecular genetics and metabolism reports.

Longitudinal polysomnographic findings in infantile Pompe disease

Sujay M Kansagra, R. Kravitz, P. Kishnani, 2015, American journal of medical genetics. Part A.

Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.

P. Kishnani, C. Lindberg, J. Keutzer, 2012, Molecular genetics and metabolism.

Polysomnographic findings in infantile Pompe disease

Sujay M Kansagra, R. Kravitz, P. Kishnani, 2013, American journal of medical genetics. Part A.

Response to Reuser

A. Amalfitano, P. Kishnani, Yt Chen, 2012, Genetics in Medicine.

Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques

C. Rehder, P. Laforêt, D. Millington, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Atypical immunologic response in a patient with CRIM-negative Pompe disease.

M. Abbott, A. Rosenberg, S. Richards, 2011, Molecular genetics and metabolism.

Expanding the phenotype of late‐onset pompe disease: Tongue weakness: A new clinical observation

P. Kishnani, Min-Hsi Lin, A. Dubrovsky, 2011, Muscle & nerve.

An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions.

P. Kishnani, J. Mackey, R. Conway, 2011, Molecular genetics and metabolism.

Molecular analysis and protein processing in late‐onset pompe disease patients with low levels of acid α‐glucosidase activity

D. Bali, P. Kishnani, J. Goldstein, 2011, Muscle & nerve.

Clinical and histologic ocular findings in pompe disease.

P. Kishnani, A. Proia, S. Banugaria, 2010, Journal of pediatric ophthalmology and strabismus.

Oropharyngeal Dysphagia in Infants and Children with Infantile Pompe Disease

Jennifer S. Li, P. Kishnani, L. Case, 2010, Dysphagia.

Elimination of antibodies to recombinant enzyme in Pompe's disease.

A. Rosenberg, P. Kishnani, Y. Messinger, 2009, The New England journal of medicine.

Language and speech function in children with infantile Pompe disease

P. Kishnani, Harrison N. Jones, J. Heller, 2009, Journal of Pediatric Neurology.

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

B. Byrne, H. Mandel, N. Leslie, 2009, Genetics in Medicine.

Immune modulation in Pompe disease treated with enzyme replacement therapy

P. Kishnani, S. Banugaria, Trusha Patel, 2012, Expert review of clinical immunology.

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

N. Longo, R. Pathak, Helio F. Pedro, 2022, Molecular genetics and metabolism.

Methodologic issues with transfer of ultrasound-based transient elastography into clinical practice

P. Kishnani, Y. T. Chen, 2007 .

Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: A clinical report series

Jennifer S. Li, D. Dawson, G. Spiridigliozzi, 2007, American journal of medical genetics. Part A.

Cardiac arrhythmias following anesthesia induction in infantile‐onset Pompe disease: a case series

A. Ross, C. Morgan, Jennifer S. Li, 2007, Paediatric anaesthesia.

Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor

J. Kurtzberg, K. Welte, D. A. Weinstein, 2019, Current opinion in hematology.

Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial

M. Kuchibhatla, L. Hobson‐Webb, R. Kravitz, 2020, Neuromuscular Disorders.

Pregnancy Outcomes in Late Onset Pompe Disease

O. Goker-Alpan, P. Kishnani, S. Austin, 2020, Life.

Pregnancy Outcomes in Late Onset Pompe Disease and Enzyme Replacement Therapy

O. Goker-Alpan, P. Kishnani, S. Austin, 2020 .

Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.

D. Bali, Sang-oh Han, D. Koeberl, 2019, Molecular genetics and metabolism.

Three cases of multi‐generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?

D. Viskochil, P. Kishnani, S. Austin, 2017, American journal of medical genetics. Part A.

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α

D. Lockhart, B. Byrne, J. Flanagan, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining.

R. R. Robey, R. Kravitz, P. Kishnani, 2016, Molecular genetics and metabolism.

Adjunctive albuterol enhances the response to enzyme replacement therapy in late‐onset Pompe disease

D. Bali, D. Koeberl, P. Kishnani, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Basilar artery aneurysm: A new finding in classic infantile pompe disease

D. Frush, P. Tanpaiboon, P. Kishnani, 2013, Muscle & nerve.

Increased inspiratory and expiratory muscle strength following respiratory muscle strength training (RMST) in two patients with late-onset Pompe disease.

P. Kishnani, Harrison N. Jones, T. Moss, 2011, Molecular genetics and metabolism.

Correction of glycogen storage disease type III with rapamycin in a canine model

J. Fyfe, B. Thurberg, P. Kishnani, 2014, Journal of Molecular Medicine.

Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.

W. Shaiu, P. Kishnani, Y. T. Chen, 2000, Molecular genetics and metabolism.

Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement

W. Hwu, P. Kishnani, 2017, Pediatrics.

Liver transplantation for pediatric metabolic disease.

D. Morton, J. Vockley, B. Burton, 2014, Molecular genetics and metabolism.

Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy

P. Kishnani, Christine I. Ha, Heidi Cope, 2017, Molecular genetics and metabolism reports.

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.

P. Kishnani, L. Case, A. Landstrom, 2022, Molecular genetics and metabolism.

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

E. Cirulli, C. Rehder, D. Bali, 2017, Molecular genetics and metabolism.

The Heterogeneity of Pompe Disease: Early Data on Genotype From the Pompe Registry

B. Byrne, S. Prasad, P. Kishnani, 2011 .

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening

C. Rehder, S. Goomber, D. Bali, 2022, Frontiers in Genetics.

Clinical laboratory experience of blood CRIM testing in infantile Pompe disease

C. Rehder, D. Bali, P. Kishnani, 2015, Molecular genetics and metabolism reports.

Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood.

M. McDonald, B. Patel, P. Kishnani, 2018, JIMD reports.

Canine Model and Genomic Structural Organization of Glycogen Storage Disease Type Ia (GSD Ia)

D. Koeberl, P. Kishnani, A. Boney, 2001, Veterinary pathology.

Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

J. Clancy, H. Mandel, N. Leslie, 2009, Pediatric Research.

Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.

Y. Chien, W. Hwu, P. Smith, 2015, JIMD reports.

Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.

P. Kishnani, N. Mendelsohn, A. Proia, 2014, Journal of pediatric ophthalmology and strabismus.

Blood‐based diagnostic testing for Pompe disease: Consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results

C. Rehder, D. Bali, P. Kishnani, 2014, Muscle & nerve.

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

P. Kishnani, P. Deegan, A. Zimran, 2017, Molecular genetics and metabolism reports.

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.

P. Kaplan, J. Ruskin, J. Charrow, 2016, Molecular genetics and metabolism.

The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease

D. Bali, P. Kishnani, R. Jack, 2006, Genetics in Medicine.

Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.

Yuan-Tsong Chen, D. Millington, A. Amalfitano, 2005, Molecular genetics and metabolism.

Anaesthetic management of infants with glycogen storage disease type II: a physiological approach

A. Ross, P. Kishnani, R. Ing, 2004, Paediatric anaesthesia.

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

B. Byrne, J. Clancy, H. Mandel, 2007, Neurology.

Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review.

A. Rosenberg, P. Kishnani, Ankit K. Desai, 2019, Annals of translational medicine.

Prenatal diagnosis of Down syndrome: How best to deliver the news

G. Capone, B. Skotko, P. Kishnani, 2009, American journal of medical genetics. Part A.

Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus.

M. Balwani, P. Kishnani, M. Wasserstein, 2021, Molecular genetics and metabolism.

Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome

P. Kishnani, N. Dixon, S. Zimmerman, 2006, American journal of medical genetics. Part C, Seminars in medical genetics.

Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys.

T. Odrljin, E. Sawyer, P. Kishnani, 2016, Metabolism: clinical and experimental.

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

W. Chung, M. Watson, P. Arn, 2019, Genetics in Medicine.

Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.

Ayesha Ahmad, R. Steiner, D. Millington, 1999, American journal of medical genetics.

Gaucher disease and SARS-CoV-2 infection: Emerging management challenges

S. Packman, E. Ginns, G. Lopez, 2020, Molecular Genetics and Metabolism.

Idiopathic Hyperammonemia following an Unrelated Cord Blood Transplant for Mucopolysaccharidosis I

W. Bradford, P. Kishnani, L. Hale, 2003, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

W. Chung, M. Watson, S. B. Wechsler, 2014, Genetics in Medicine.

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.

N. Bishop, H. Saal, W. Fraser, 2017, Molecular genetics and metabolism.

Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy.

D. Frush, P. Kishnani, Christine I. Ha, 2019, Molecular genetics and metabolism.

Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics

S. Kapoor, S. Phadke, A. Dalal, 2018, Indian Pediatrics.

Neurogenic bladder dysfunction presenting as urinary retention in neuronopathic Gaucher disease.

J. Wiener, P. Kishnani, Erin Mcnamara, 2015, JIMD reports.

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

Seung-hye Jung, M. Balwani, P. Kishnani, 2021, Molecular genetics and metabolism reports.

Current perspectives on Down syndrome: Selected medical and social issues

N. Roizen, P. Kishnani, G. Worley, 2006, American journal of medical genetics. Part C, Seminars in medical genetics.

Triploid mosaicism in a 45,X/69,XXY infant

M. McDonald, A. Haqq, P. Kishnani, 2005, American journal of medical genetics. Part A.

Ectopic Ocular Surface Calcification in Patients With Hypophosphatasia Treated With Asfotase Alfa.

P. Kishnani, M. T. Bhatti, T. Cummings, 2019, Cornea.

Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease

M. Kabra, A. Mehta, A. Bavdekar, 2013, American journal of hematology.

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

P. Jacques, S. Lévesque, Elaine Gravel, 2016, Orphanet Journal of Rare Diseases.

Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease

Lauran R. Madden, N. Bursac, Sang-oh Han, 2021, Communications biology.

Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.

P. Kishnani, A. Boney, S. Young, 2011, Molecular genetics and metabolism.

Right frontal lobe encephalomalacia in an adult propionic acidemia patient with neuropsychiatric manifestations

P. Kishnani, P. Prasun, L. Bailey, 2014, Molecular genetics and metabolism reports.

Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia

J. Kelsen, P. Kishnani, W. Hannah, 2022, Molecular genetics and metabolism reports.

Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy

C. Bass, J. Everitt, D. Koeberl, 2018, Journal of Inherited Metabolic Disease.

Late onset Pompe Disease in India – Beyond the Caucasian phenotype

M. Kabra, K. Girisha, S. Nampoothiri, 2021, Neuromuscular Disorders.

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.

R. Schiffmann, P. Kang, D. Bali, 2023, Molecular genetics and metabolism.

Pompe Disease Results in a Golgi-based Glycosylation Deficit in Human Induced Pluripotent Stem Cell-derived Cardiomyocytes*

James A Thomson, Chad H. Koonce, Brent E. White, 2014, The Journal of Biological Chemistry.

Golgi glycosylation defect in Pompe iPSC-cardiomyocytes 1 Pompe Disease Results in a Golgi-based Glycosylation Deficit in Human Induced Pluripotent Stem Cell-derived Cardiomyocytes

Chad H. Koonce, Brent E. White, Kamp, 2014 .

Targeted long-read sequencing identifies missing disease-causing variation.

William H. Majoros, Karynne E. Patterson, Timothy E. Reddy, 2021, American journal of human genetics.

Combination of exome sequencing and immune testing confirms Aicardi–Goutières syndrome type 5 in a challenging pediatric neurology case

Jonathan S. Berg, James P. Evans, Karen E. Weck, 2018, Cold Spring Harbor molecular case studies.

Liver transplantation for glycogen storage disease type Ia.

B. Clary, D. Koeberl, P. Kishnani, 2009, Journal of hepatology.

Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.

J. Wiener, P. Kishnani, Erin Mcnamara, 2015, JIMD reports.

Thyroid dysfunction in patients with Down syndrome: Results from a multi‐institutional registry study

J. Florez, A. Ozonoff, B. Skotko, 2017, American journal of medical genetics. Part A.

Postnatal Diagnosis of Down Syndrome: Synthesis of the Evidence on How Best to Deliver the News

G. Capone, B. Skotko, P. Kishnani, 2009, Pediatrics.

Detection of iron deficiency in children with Down syndrome

Sarah J. Hart, B. Skotko, S. Santoro, 2019, Genetics in Medicine.

Donepezil for Down's syndrome.

K. Krishnan, P. Doraiswamy, G. Spiridigliozzi, 2001, The American journal of psychiatry.

Frequency of Celiac Disease in Individuals with Down Syndrome in the United States

P. Kishnani, W. Treem, J. Mackey, 2001, Clinical pediatrics.

Clinical trials in children with Down syndrome: Issues from a cognitive research perspective

Jennifer S. Li, G. Spiridigliozzi, P. Kishnani, 2006, American journal of medical genetics. Part C, Seminars in medical genetics.

Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review

Sarah J. Hart, G. Spiridigliozzi, P. Kishnani, 2017, American journal of medical genetics. Part A.

Hypothyroidism in Down syndrome: Screening guidelines and testing methodology

P. Kishnani, J. Mackey, G. Worley, 2004, American journal of medical genetics. Part A.

R. Touraine, R. de la Torre, L. Squassante, 2017, Advances in Therapy.

Sibling phenotype concordance in classical infantile Pompe disease

Yuan-Tsong Chen, Jennifer S. Li, P. Kishnani, 2007, American journal of medical genetics. Part A.

Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature.

L. Hobson‐Webb, B. Thurberg, P. Kishnani, 2012, Molecular genetics and metabolism.

Glycogen storage disease types I and II: Treatment updates

Yuan-Tsong Chen, D. Koeberl, P. Kishnani, 2007, Journal of Inherited Metabolic Disease.

Hypophosphatasia: Enzyme Replacement Therapy (Asfotase Alfa) Decreases TNSALP Substrate Accumulation And Improves Functional Outcomes In Affected Adolescents And Adults.

H. Plotkin, C. Greenberg, M. Whyte, 2012 .

The emerging phenotype of late-onset Pompe disease: A systematic literature review.

L. Hobson‐Webb, P. Kishnani, L. Case, 2017, Molecular genetics and metabolism.

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.

Wuh-Liang Hwu, Hanna Mandel, H. Mandel, 2006, The Journal of pediatrics.

Pompe disease diagnosis and management guideline

David M. Rapoport, Michael S. Watson, Robert D. Steiner, 2006, Genetics in Medicine.

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III

P. Kishnani, L. Case, A. Muir, 2021, Molecular genetics and metabolism reports.

Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III

C. Rehder, D. Bali, P. Kishnani, 2010, Genetics in Medicine.

Double mutantfibrillin-1 (FBN1)allele ina patient withneonatal Marfansyndrome

S. Kahler, P. Kishnani, M. Godfrey, 1996 .

Detecting celiac disease in patients with Down syndrome

J. Florez, A. Ozonoff, B. Skotko, 2016, American journal of medical genetics. Part A.

The emerging phenotype of long-term survivors with infantile Pompe disease

C. Phornphutkul, P. Kishnani, L. Case, 2012, Genetics in Medicine.

Immunotherapy in selected patients with Down syndrome disintegrative disorder

Sarah J. Hart, J. Jasien, P. Kishnani, 2018, Developmental medicine and child neurology.

A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome

J. Hipp, M. Rafii, P. Fontoura, 2022, Journal of neurodevelopmental disorders.

Role of continuous glucose monitoring in the management of glycogen storage disorders

P. Kishnani, Carine A. Halaby, S. Pendyal, 2018, Journal of Inherited Metabolic Disease.

Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia.

D. Little, D. Koeberl, M. Freemark, 2013, Molecular genetics and metabolism.

Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.

P. Kishnani, Rebecca A. Gibson, G. E. Cooper, 2020, Molecular genetics and metabolism.

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

C. Rehder, D. Bali, D. A. Weinstein, 2014, Molecular genetics and metabolism.

Nutritional deficiencies in a patient with glycogen storage disease type Ib

P. Kishnani, A. Boney, Y-T. Chen, 1999, Journal of Inherited Metabolic Disease.

Urea cycle disorders: clinical presentation outside the newborn period.

Brendan H. Lee, Rani H. Singh, M. Summar, 2005, Critical care clinics.

Glycogen Storage Disease Type III diagnosis and management guidelines

W. Chung, M. Watson, S. B. Wechsler, 2010, Genetics in Medicine.

Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?

R. Kelley, A. Amalfitano, Y. T. Chen, 1999, American journal of medical genetics.

Physical therapy management of Pompe disease

P. Kishnani, L. Case, 2006, Genetics in Medicine.

Hepatocellular carcinoma in glycogen storage disease type Ia: A case series

D. Frush, P. Arn, Yuan-Tsong Chen, 2005, Journal of Inherited Metabolic Disease.

Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers

Ling-Hui Li, T. Chuang, Yuan-Tsong Chen, 2014, Journal of Gastroenterology.

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease

D. Piccoli, P. Kishnani, B. Brown, 1996, Journal of Inherited Metabolic Disease.

A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum

P. Kishnani, S. Kaplan, B. Kiely, 2022, Frontiers in Genetics.

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.

B. Thurberg, P. Kishnani, H. Yi, 2017, Human gene therapy.

Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV

Fengqin Gao, P. Kishnani, H. Yi, 2016, Molecular genetics and metabolism reports.

Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.

M. den Heijer, R. Wevers, S. Wortmann, 2011, Molecular genetics and metabolism.

Real‐world effectiveness of eliglustat in treatment‐naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry

J. Charrow, C. Niederau, M. Balwani, 2020, American journal of hematology.

Unexplained regression in Down syndrome: Management of 51 patients in an international patient database

Sarah J. Hart, N. Horick, Katherine G. Pawlowski, 2022, American journal of medical genetics. Part A.

Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management

P. Kishnani, C. Rockman‐Greenberg, Ricardo Ong, 2020, Molecular genetics and metabolism reports.

Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6‐month longitudinal study

Sarah J. Hart, L. Squassante, G. Spiridigliozzi, 2018, American journal of medical genetics. Part A.

Safety and efficacy of rivastigmine in adolescents with Down syndrome: a preliminary 20-week, open-label study.

K. Krishnan, P. Doraiswamy, Jennifer S. Li, 2006, Journal of child and adolescent psychopharmacology.

Novel approaches to quantify CNS involvement in children with Pompe disease

J. Provenzale, G. Spiridigliozzi, K. Zimmerman, 2020, Neurology.

Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.

G. Spiridigliozzi, P. Kishnani, S. Austin, 2017, Molecular genetics and metabolism.

Cross-Sectional Exploration of Plasma Biomarkers of Alzheimer’s Disease in Down Syndrome: Early Data from the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study

Sarah J. Hart, H. D. Rosas, D. Airey, 2021, Journal of clinical medicine.

Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease

Fengqin Gao, N. Raben, Jeong-A Lim, 2019, Molecular therapy. Methods & clinical development.

Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): A protocol for a sham-controlled clinical trial

M. Kuchibhatla, R. Kravitz, P. Kishnani, 2019, Molecular genetics and metabolism.

Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness.

L. Mahler, R. Kravitz, P. Kishnani, 2014, Journal of pediatric rehabilitation medicine.

A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme

Fengqin Gao, Jeong-A Lim, P. Kishnani, 2020, Molecular therapy. Methods & clinical development.

Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function

L. Hobson‐Webb, P. Kishnani, Paul J Zwelling, 2021, Molecular genetics and metabolism reports.

Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia.

Yuan-Tsong Chen, Jer-Yuarn Wu, A. Brix, 1997, Biochemical and molecular medicine.

Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database

Sarah J. Hart, G. Capone, B. Skotko, 2019, Genetics in Medicine.

Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study

L. Squassante, G. Spiridigliozzi, O. Khwaja, 2015, Front. Behav. Neurosci..

Diagnostic challenges for Pompe disease: An under-recognized cause of floppy baby syndrome

Barry Byrne, B. Byrne, R. Howell, 2006, Genetics in Medicine.

New observation of sialuria prompts detection of liver tumor in previously reported patient.

R. Stevenson, M. Huizing, Nansheng Chen, 2016, Molecular genetics and metabolism.

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.

G. Herman, R. C. Rogers, T. Voit, 2006, The Journal of pediatrics.

Pompe disease in infants and children.

R. Howell, P. Kishnani, 2004, The Journal of pediatrics.

Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.

Y. Chien, A. Broomfield, A. Brassier, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via Newborn Screening: The benefits of early treatment with enzyme replacement therapy and immune tolerance induction

W. Craigen, P. Tanpaiboon, R. Hopkin, 2021, Genetics in Medicine.

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Y. Chien, V. Kimonis, N. Leslie, 2019, Human mutation.

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease

W. Hwu, B. Burton, P. Kishnani, 2017, Pediatrics.

Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy.

B. Byrne, Y. Chien, D. Stockton, 2014, Journal of neuromuscular diseases.

The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry.

S. Prasad, A. T. van der Ploeg, L. Merlini, 2011, Molecular genetics and metabolism.

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

Yuan-Tsong Chen, R. Finkel, Yuan-Tsong Chen, 2011, Genetics in Medicine.

Pompe disease: design, methodology, and early findings from the Pompe Registry.

B. Byrne, S. Prasad, A. T. van der Ploeg, 2011, Molecular genetics and metabolism.

Diagnostic criteria for late‐onset (childhood and adult) pompe disease

R. Barohn, A. Amato, P. Kishnani, 2009, Muscle & nerve.

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.

P. Kishnani, D. Corzo, R. Pomponio, 2007, Molecular genetics and metabolism.

Pompe disease diagnosis and management guideline ACMG Work Group on Management of Pompe Disease :

B. Byrne, D. Rapoport, M. Watson, 2006 .

Echocardiographic manifestations of Glycogen Storage Disease III: Increase in wall thickness and left ventricular mass over time

S. B. Wechsler, D. Bali, Jennifer S. Li, 2010, Genetics in Medicine.

Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.

O. Abdul-Rahman, P. Tanpaiboon, A. Rosenberg, 2017, JCI insight.

A longitudinal, prospective, long-term registry of patients with hypophosphatasia

C. Bedrosian, K. Ozono, A. Cole, 2015 .

Burden of disease in children with hypophosphatasia: results from patient-reported surveys

T. Odrljin, E. Sawyer, P. Kishnani, 2015 .

Hypophosphatasia: enzyme replacement therapy (ENB-0040) decreases TNSALP substrate accumulation and improves functional outcome in affected adolescents and adults

H. Plotkin, M. Whyte, P. Kishnani, 2012 .

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? – Call for a long-term follow-up of premature loss of primary teeth

P. Kishnani, Stephanie DeArmey, T. Weber, 2016, Bone reports.

Physical therapy management of infants and children with hypophosphatasia.

S. L. Lara, P. Kishnani, L. Case, 2016, Molecular Genetics and Metabolism.

Pharmacodynamics of Asfotase Alfa in Adults With Pediatric-Onset Hypophosphatasia.

M. Whyte, P. Kishnani, A. Denker, 2020, Bone.

SUN-529 Burden of Illness in Adults with Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry

K. Ozono, P. Kishnani, A. Linglart, 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Pulmonary hypertension in glycogen storage disease type I

P. Kishnani, Y. T. Chen, A. Bengur, 1996, Journal of Inherited Metabolic Disease.

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy

H. Mandel, N. Raben, P. Kishnani, 2013, Orphanet Journal of Rare Diseases.

Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome

Sarah J. Hart, Katherine G. Pawlowski, B. Skotko, 2022, American journal of medical genetics. Part A.

CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

C. Rehder, N. Karabul, D. Bali, 2015, Genetics in Medicine.

CRIM-negative infantile Pompe disease: Characterization of immune responses in patients treated with ERT monotherapy

C. Rehder, N. Karabul, D. Bali, 2015, Genetics in Medicine.

Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice

Jeong-A Lim, P. Kishnani, Baodong Sun, 2022, JCI insight.

Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.

P. Kishnani, L. Case, S. Austin, 2021, Molecular genetics and metabolism.

Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type III

P. Kishnani, S. Austin, S. Young, 2020, JIMD reports.

Severe Cardiac Involvement Is Rare in Patients with Late‐Onset Pompe Disease and the Common c.‐32‐13T>G Variant: Implications for Newborn Screening

Jennifer S. Li, P. Kishnani, Mrudu Herbert, 2018, The Journal of pediatrics.

Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease

A. D. De Groot, P. Kishnani, W. Martin, 2021, Frontiers in Immunology.

HLA- and genotype-based risk assessment model to identify infantile onset pompe disease patients at high-risk of developing significant anti-drug antibodies (ADA).

A. K. Desai, A. D. De Groot, P. Kishnani, 2019, Clinical Immunology.

Are we prepared to deliver gene‐targeted therapies for rare diseases?

S. Kingsmore, T. Yu, M. Might, 2023, American journal of medical genetics. Part C, Seminars in medical genetics.

Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.

M. Pedroso, M. Balwani, O. Goker-Alpan, 2017, Blood.

Liver depot gene therapy for Pompe disease.

D. Koeberl, P. Kishnani, 2019, Annals of translational medicine.

The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings

L. Hobson‐Webb, P. Kishnani, Stephanie DeArmey, 2011, Clinical Neurophysiology.

Screening for pompe disease using a rapid dried blood spot method: Experience of a clinical diagnostic laboratory

D. Millington, D. Bali, P. Kishnani, 2009, Muscle & nerve.

Correlation between quantitative whole‐body muscle magnetic resonance imaging and clinical muscle weakness in pompe disease

B. Soher, Jeffrey J. Horvath, M. Bashir, 2015, Muscle & nerve.

Menorrhagia in Patients With Type I Glycogen Storage Disease

A. James, P. Kishnani, S. Austin, 2013, Obstetrics and gynecology.

Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks

Y. Chien, B. Schoser, S. Illarioshkin, 2023, JAMA neurology.

Use of the patient-reported outcomes measurement information system (PROMIS®) to assess late-onset Pompe disease severity

A. Mulberg, P. Kishnani, S. Sitaraman, 2020, Journal of Patient-Reported Outcomes.

D. Stockton, M. Gambello, N. Leslie, 2018, Genetics in Medicine.

How common is misdiagnosis in late‐onset pompe disease?

L. Hobson‐Webb, P. Kishnani, 2012, Muscle & nerve.

Early cognitive development in children with infantile Pompe disease.

G. Spiridigliozzi, P. Kishnani, L. Case, 2012, Molecular genetics and metabolism.

Correction of glycogen storage disease type III with rapamycin in a canine model

J. Fyfe, B. Thurberg, P. Kishnani, 2014, Journal of Molecular Medicine.

Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long‐term follow‐up

G. Spiridigliozzi, P. Kishnani, J. Heller, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease.

J. Phillips, Yuan-Tsong Chen, A. Fogo, 2004, Pediatrics.

Whole‐body magnetic resonance imaging in late‐onset Pompe disease: Clinical utility and correlation with functional measures

P. Kishnani, L. Case, S. Austin, 2019, Journal of inherited metabolic disease.

Response to Heiner-Fokkema et al.

P. Kishnani, S. Austin, S. Young, 2020, Genetics in Medicine.

Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.

J. Charrow, P. Maison-Blanche, H. Baris, 2018, Blood cells, molecules & diseases.

Characterization of gait in late onset Pompe disease.

P. Kishnani, L. Case, S. Austin, 2015, Molecular genetics and metabolism.

Pompe disease- experience from South India

L. Lingappa, P. Kishnani, A. Dherai, 2013, BMC Musculoskeletal Disorders.

Long term outcome and clinical experience on immune tolerance induction therapies in infantile Pompe disease

P. Kishnani, S. Austin, 2012, BMC Musculoskeletal Disorders.

MRI assessment of left ventricular structure and function in children with infantile Pompe disease

R. Kim, P. Barker, Jennifer S. Li, 2010 .

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.

L. Pena, P. Kishnani, A. Proia, 2015, JIMD reports.

Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10–17

T. McRae, I. Lott, G. Spiridigliozzi, 2010, American journal of medical genetics. Part A.

Improvement of bilateral ptosis on higher dose enzyme replacement therapy in Pompe disease.

P. Kishnani, R. Casey, S. Banugaria, 2010, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.

B. Soher, Jeffrey J. Horvath, M. Bashir, 2012, Molecular genetics and metabolism.

Erratum: Pompe disease diagnosis and management guidelines (Genetics in Medicine (May 2006) 8 (267-288))

B. Byrne, D. Rapoport, M. Watson, 2006 .

Glycogen Storage Diseases

P. Kishnani, 2014 .

Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation.

P. Kishnani, H. Yi, Baodong Sun, 2013, Molecular genetics and metabolism.

Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.

D. Corcoran, W. Kraus, N. Bursac, 2018, Molecular therapy : the journal of the American Society of Gene Therapy.

An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond.

Jeong-A Lim, P. Kishnani, Baodong Sun, 2019, Annals of translational medicine.

Donepezil use in Down syndrome.

G. Spiridigliozzi, P. Kishnani, Blythe G. Crissman, 2004, Archives of neurology.

Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome

P. Kishnani, K. Lindstrom, L. Pollard, 2020, Frontiers in Immunology.

Speech Disorders in Children With Pompe Disease: Articulation, Resonance, and Voice Measures.

A. Neel, P. Kishnani, Kelly D. Crisp, 2023, American journal of speech-language pathology.

Generating color‐coded anatomic muscle maps for correlation of quantitative magnetic resonance imaging analysis with clinical examination in neuromuscular disorders

Jeffrey J. Horvath, M. Bashir, P. Kishnani, 2013, Muscle & nerve.

Whole-brain irradiation and decline in intelligence: the influence of dose and age on IQ score.

J W Goldwein, J. Silber, G. Perilongo, 1992, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Outside the fiber: Endomysial stromal and capillary pathology in skeletal muscle may impede infusion therapy in infantile-onset Pompe disease.

E. Bossen, P. Kishnani, A. Buckley, 2023, Journal of neuropathology and experimental neurology.

National down syndrome patient database: Insights from the development of a multi‐center registry study

J. Florez, A. Ozonoff, B. Skotko, 2015, American journal of medical genetics. Part A.

Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database

Sarah J. Hart, G. Capone, B. Skotko, 2019, Genetics in Medicine.

Successful AAV8 readministration: Suppression of capsid‐specific neutralizing antibodies by a combination treatment of bortezomib and CD20 mAb in a mouse model of Pompe disease

W. Jeck, Jeong-A Lim, T. Tedder, 2023, The journal of gene medicine.

Phase I Study of Liver Depot Gene Therapy in Late-onset Pompe Disease.

D. Bali, Tracy Spears, J. Chichester, 2023, Molecular therapy : the journal of the American Society of Gene Therapy.

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.

M. Gelb, P. Chakraborty, D. Bali, 2022, The New England journal of medicine.

Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients

Y. Chien, B. Schoser, S. Illarioshkin, 2021 .

Recombinant human acid α-glucosidase

B. Byrne, J. Clancy, H. Mandel, 2007, Neurology.

Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods

A. Neel, P. Kishnani, Aditi Korlimarla, 2021, Journal of clinical medicine.

Urea Cycle Disorders: Clinical Presentation Outside the Newborn Period

Brendan H. Lee, Rani H. Singh, M. Summar, 2005 .

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

J. Clancy, J. Charrow, C. Tifft, 2015, Neuromuscular Disorders.

Gene therapy for glycogen storage diseases

Jeong-A Lim, D. Koeberl, P. Kishnani, 2023, Journal of inherited metabolic disease.

Predicting Cross Reactive Immunological Material (CRIM) Status in Pompe Disease Using GAA Mutations: Lessons Learned from 10 Years of Clinical Laboratory Testing Experience

C. Rehder, P. Kishnani, J. Goldstein, 2012 .

Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy

P. Kishnani, D. Jackson, S. Pendyal, 2023, JIMD Reports.

Successful combined liver/kidney transplantation from a donor with Pompe disease.

K. Mekeel, M. Valasek, R. Loomba, 2015, Molecular genetics and metabolism.

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.

W. Kraus, Yuan-Tsong Chen, D. Bali, 2013, Molecular genetics and metabolism.

Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial

Sarah J. Hart, G. Capone, G. Spiridigliozzi, 2016, American journal of medical genetics. Part A.

Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives

P. Kishnani, B. Driehuys, D. Mummy, 2023, Therapeutics and clinical risk management.

Death from supine asphyxia in late onset pompe disease: Two patients

D. Koeberl, P. Kishnani, S. Austin, 2016, American journal of medical genetics. Part A.

Donepezil for the treatment of language deficits in adults with Down syndrome: A preliminary 24‐week open trial

P. Doraiswamy, R. Krishnan, G. Spiridigliozzi, 2003, American journal of medical genetics. Part A.

Quantitative assessment of lingual strength in late‐onset Pompe disease

R. Sloane, P. Kishnani, Priyanka Asrani, 2015, Muscle and Nerve.

Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease

P. Kishnani, E. Raynor, W. Hannah, 2020, Molecular genetics and metabolism reports.

Longitudinal polysomnographic findings in infantile Pompe disease

R. Kravitz, P. Kishnani, S. Austin, 2015, American journal of medical genetics. Part A.

Expanding the phenotype of late‐onset pompe disease: Tongue weakness: A new clinical observation

P. Kishnani, Min-Hsi Lin, A. Dubrovsky, 2011, Muscle & nerve.

Screening data from 19 patients with late‐onset Pompe disease for a phase I clinical trial of AAV8 vector‐mediated gene therapy

D. Bali, D. Koeberl, P. Kishnani, 2023, JIMD reports.

Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.

M. Kuchibhatla, L. Hobson‐Webb, P. Kishnani, 2021, Molecular genetics and metabolism.

The emerging phenotype of late-onset Pompe disease: A systematic literature review.

L. Hobson‐Webb, P. Kishnani, L. Case, 2017, Molecular genetics and metabolism.

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa.

A. Pestronk, J. Charrow, H. Plotkin, 2012, Molecular genetics and metabolism.

Infantile Pompe disease on ERT—Update on clinical presentation, musculoskeletal management, and exercise considerations

P. Kishnani, L. Case, A. Beckemeyer, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Glycogen storage diseases

T. Derks, P. Kishnani, William B. Hannah, 2023, Nature Reviews Disease Primers.

Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease

S. Borneman, P. Kishnani, S. Austin, 2017, Journal of Molecular Medicine.

The clinical phenotype of Long-term infantile Pompe disease survivors

P. Kishnani, L. Case, J. Mackey, 2011 .

Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.

G. Spiridigliozzi, P. Kishnani, S. Austin, 2017, Molecular genetics and metabolism.

Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses.

D. Stockton, D. Viskochil, A. Rosenberg, 2016, JCI insight.

Cross-reactive immunologic material positive infantile Ρompe disease: Characterization of immune responses in patient treated with enzyme replacement therapy

P. Kishnani, Ankit K. Desai, Z. Kazi, 2016 .

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

C. Rehder, D. Bali, A. Boneh, 2014, Molecular genetics and metabolism.

Liver transplantation for pediatric metabolic disease.

D. Morton, J. Vockley, B. Burton, 2014, Molecular genetics and metabolism.

Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study

P. DasMahapatra, C. Gwaltney, C. Ivanescu, 2023, Neurology. Clinical practice.

Detection of iron deficiency in children with Down syndrome

Sarah J. Hart, B. Skotko, S. Santoro, 2019, Genetics in Medicine.

The Global ALPL gene variant classification project: Dedicated to deciphering variants.

P. Kishnani, G. Martos-Moreno, A. El-Gazzar, 2023, Bone.

Starch Binding Domain-containing Protein 1 Plays a Dominant Role in Glycogen Transport to Lysosomes in Liver*

P. Kishnani, Tao Sun, Chunyu Yang, 2016, The Journal of Biological Chemistry.

Diagnostic criteria for late‐onset (childhood and adult) pompe disease

R. Barohn, A. Amato, P. Kishnani, 2009, Muscle & nerve.

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.

P. Kaplan, J. Ruskin, J. Charrow, 2016, Molecular genetics and metabolism.

Stone forming risk factors in patients with type Ia glycogen storage disease.

G. Preminger, C. Scales, D. Koeberl, 2010, The Journal of urology.

Case Report: Improvement Following Immunotherapy in an Individual With Seronegative Down Syndrome Disintegrative Disorder

Sarah J. Hart, P. Kishnani, G. Worley, 2021, Frontiers in Neurology.

Prenatal diagnosis of Down syndrome: How best to deliver the news

G. Capone, B. Skotko, P. Kishnani, 2009, American journal of medical genetics. Part A.

Letter to the Editors: Concerning “CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy” by Al Khallaf et al

C. Morgan, A. Rosenberg, P. Kishnani, 2014, Journal of Inherited Metabolic Disease.

Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency

D. Koeberl, P. Kishnani, K. Eschrich, 2007, Journal of Inherited Metabolic Disease.

Cardiac Pathology in Glycogen Storage Disease Type III.

S. B. Wechsler, J. Butany, P. Kishnani, 2012, JIMD reports.