J. Muenzer

发表

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

I Knudsen, P. Bross, B. Andresen, 2001, American journal of human genetics.

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.

P. Kaplan, D. Stockton, B. Burton, 2017, The Journal of pediatrics.

Overview of the mucopolysaccharidoses.

J. Muenzer, 2011, Rheumatology.

Reference list

Lin, Jones, Oj, 2020, Mammalian Genome.

The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005

D. Millington, D. Koeberl, S. McCandless, 2006, Journal of Inherited Metabolic Disease.

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

D. Millington, D. Koeberl, S. McCandless, 2003, Journal of Inherited Metabolic Disease.

Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries

R. Giugliani, J. Muenzer, D. Elstein, 2021, Molecular Genetics and Metabolism Reports.

A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide

A. Mehta, U. Ramaswami, R. Giugliani, 2021, Orphanet Journal of Rare Diseases.

Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)

B. Burton, R. Giugliani, J. Muenzer, 2021, Orphanet Journal of Rare Diseases.

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.

A. Kemper, D. Bailey, C. Powell, 2019, The Journal of pediatrics.

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry

D. Viskochil, J. Muenzer, L. Clarke, 2019, American journal of medical genetics. Part A.

Co‐occurring Down syndrome and SUCLA2‐related mitochondrial depletion syndrome

Laurie D. Smith, A. Pandya, C. Powell, 2017, American journal of medical genetics. Part A.

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

B. Burton, R. Giugliani, S. Jones, 2017, Orphanet Journal of Rare Diseases.

Safety and feasibility of high-pressure transvenous limb perfusion with 0.9% saline in human muscular dystrophy.

H. An, Weili Lin, W. Powers, 2012, Molecular therapy : the journal of the American Society of Gene Therapy.

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

C. Eng, M. Shinawi, U. Ramaswami, 2011, Genetics in Medicine.

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

C. Eng, M. Shinawi, U. Ramaswami, 2006, Genetics in Medicine.

Attempted enzyme replacement using human amnion membane implantations in mucopolysaccharidoses

M. Kaiser-Kupfer, J. Thompson, J. Danoff, 1992, Journal of Inherited Metabolic Disease.

Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice

J. Muenzer, S. Moy, A. Perez, 2007, Gene Therapy.

Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.

D. Millington, R. Wenstrup, J. V. Van Hove, 1995, American journal of medical genetics.

Stable isotopic measurement of endogenous fecal calcium excretion in children.

A. Yergey, S. Abrams, N. Vieira, 1991, Journal of pediatric gastroenterology and nutrition.

High-Pressure Transvenous Perfusion of the Upper Extremity in Human Muscular Dystrophy: A Safety Study with 0.9% Saline.

Yasheng Chen, H. An, Weili Lin, 2015, Human gene therapy.

Enzyme-replacement therapy in mucopolysaccharidosis I.

J. Belmont, I. Walot, J. Phillips, 2001, The New England journal of medicine.

Neurological correction of lysosomal storage in a mucopolysaccharidosis IIIB mouse model by adeno-associated virus-mediated gene delivery.

R. Samulski, T. Mccown, J. Muenzer, 2002, Molecular therapy : the journal of the American Society of Gene Therapy.

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

John J. Mitchell, Y. Eto, C. Hendriksz, 2019, Orphanet Journal of Rare Diseases.

Restoration of central nervous system α‐N‐acetylglucosaminidase activity and therapeutic benefits in mucopolysaccharidosis IIIB mice by a single intracisternal recombinant adeno‐associated viral type 2 vector delivery

J. Muenzer, H. Fu, D. Mccarty, 2010, The journal of gene medicine.

Targeting Root Cause by Systemic scAAV9-hIDS Gene Delivery: Functional Correction and Reversal of Severe MPS II in Mice

J. Muenzer, H. Fu, D. Mccarty, 2018, Molecular therapy. Methods & clinical development.

Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey

R. Giugliani, J. E. Wraith, Yasuyuki Suzuki, 2011, Genetics in Medicine.

Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS II.

J. DaCosta, J. Muenzer, Jing Pan, 2007, Molecular genetics and metabolism.

The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus

B. Burton, R. Giugliani, O. Bodamer, 2011, European Journal of Pediatrics.

Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry

D. Viskochil, J. Muenzer, L. Clarke, 2022, American journal of medical genetics. Part A.

Idursulfase pharmacokinetics, cellular uptake, and pharmacodynamics: Effect of sialylation and manufacturing process

J. Muenzer, D. Whiteman, J. Lamsa, 2020, Engineering Reports.

Multidisciplinary Management of Hunter Syndrome

C. Eng, U. Ramaswami, R. Giugliani, 2009, Pediatrics.

Sanfilippo syndrome: consensus guidelines for clinical care

R. Giugliani, J. Muenzer, C. Whitley, 2022, Orphanet Journal of Rare Diseases.

Glucose-6-Phosphatase Mutation G188R Confers an Atypical Glycogen Storage Disease Type 1b Phenotype

E. Schaftingen, M. Veiga-da-Cunha, E. Mayatepek, 2000, Pediatric Research.

Advances in the treatment of mucopolysaccharidosis type I.

J. Muenzer, A. Fisher, 2004, The New England journal of medicine.

Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts

R. Tomanin, F. Zacchello, J. Muenzer, 2005, The journal of gene medicine.

Erratum: A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) (Genetics in Medicine (August 2006) 8, 8, (465-473))

C. Eng, M. Shinawi, U. Ramaswami, 2006 .

Longitudinal neurocognitive outcome in an adolescent with Hurler-Scheie syndrome

T. Elkin, H. Bock, J. Muenzer, 2006, Neuropsychiatric disease and treatment.

Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)

C. Eng, R. Giugliani, J. Muenzer, 2008, Pediatrics.

Purification of proline-rich proteins from parotid glands of isoproterenol-treated rats.

D. M. Carlson, J. Muenzer, M. Gleason, 1979, The Journal of biological chemistry.

Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations

J. Muenzer, J. Mcclure, N. Couser, 2017, Ophthalmic genetics.

5-Oxoprolinuria in an adolescent with chronic metabolic acidosis, mental retardation, and psychosis.

P. Robertson, J. Muenzer, D. Buchanan, 1991, The Journal of pediatrics.

Positive-ion thermospray liquid chromatography-mass spectrometry: detection of organic acidurias.

J. Thoene, J. Muenzer, D. Buchanan, 1990, Journal of chromatography.

Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I

R. Giugliani, J. Muenzer, N. Muschol, 2020, Archives of Disease in Childhood.

Early initiation of enzyme replacement therapy for the mucopolysaccharidoses.

Joseph Muenzer, J. Muenzer, 2014, Molecular genetics and metabolism.

Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I

D. Rapoport, J. E. Wraith, J. Muenzer, 2009, Pediatrics.

The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I.

Joseph Muenzer, Elsa Shapiro, Janet Thomas, 2007, Molecular genetics and metabolism.

Electroretinographic findings in the mucopolysaccharidoses.

M. Kaiser-Kupfer, P. Mercer, M. Zasloff, 1986, Ophthalmology.

Mucopolysaccharidosis I: Management and Treatment Guidelines

J. E. Wraith, J. Muenzer, L. Clarke, 2009, Pediatrics.

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

Y. Eto, C. Hendriksz, R. Giugliani, 2019, Orphanet Journal of Rare Diseases.

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

A. Vanderver, Nan Wang, B. Burton, 2014, Molecular genetics and metabolism reports.

The natural history of MPS I: global perspectives from the MPS I Registry

P. Arn, R. Giugliani, T. Okuyama, 2014, Genetics in Medicine.

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

Joseph Muenzer, Lorne A Clarke, Michael Beck, 2004, The Journal of pediatrics.

The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations.

J. Muenzer, 2004, The Journal of pediatrics.

Respiratory manifestations in mucopolysaccharidoses.

J. Muenzer, M. Muhlebach, W. Wooten, 2011, Paediatric respiratory reviews.

Evaluation of disease severity in mucopolysaccharidoses.

J. Muenzer, M. Scarpa, M. Beck, 2010, Journal of pediatric rehabilitation medicine.

Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation

J. K. Smith, M. Castillo, D. Armao, 2004, Neuroradiology.

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

D. Viskochil, R. Giugliani, T. Okuyama, 2019, Clinical genetics.

Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.

Laurie D. Smith, B. Burton, R. Giugliani, 2014, JIMD reports.

Initial report from the Hunter Outcome Survey

R. Giugliani, J. E. Wraith, J. Muenzer, 2008, Genetics in Medicine.

843 AMNIOTIC MEMBRANE IMPLANTATION IN MUCOPOLYSACCHARIDOSIS

M. Zasloff, J. Muenzer, G. Constantopoulos, 1985, Pediatric Research.

Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II.

B. Burton, M. Inbar‐Feigenberg, J. Muenzer, 2022, Molecular genetics and metabolism.

Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.

B. Burton, M. Inbar‐Feigenberg, J. Muenzer, 2022, Molecular genetics and metabolism.

Long-term open-label phase I/II extension study of intrathecal idursulfase-IT in the treatment of neuronopathic mucopolysaccharidosis II.

J. Muenzer, Margot B. Stein, S. Kearney, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.

J. H. van der Lee, J. Eisengart, R. Giugliani, 2020, Molecular genetics and metabolism.

The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome

J. Eisengart, J. Muenzer, C. Whitley, 2019, Molecular genetics and metabolism reports.

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)

R. Giugliani, J. Muenzer, A. Tylki-Szymańska, 2017, Orphanet Journal of Rare Diseases.

Adult‐Onset Presentation of Glutaric Acidemia Type II With Myopathy

J. Howard, J. Muenzer, F. Frerman, 2003, Journal of clinical neuromuscular disease.

TREATMENT OF HYPERPHENYLALANINEMIA SECONDARY TO A DEFICIENCY OF BIOPTERIN WITH REDUCED PTERINS

J. Muenzer, J. Sidbury, S. Berlow, 1984, Pediatric Research.

A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II

M. Mascelli, C. Hendriksz, Zheng Fan, 2015, Genetics in Medicine.

Idiopathic Gingival Hyperplasia: A Case Report with a 17-Year Followup

J. Muenzer, M. Roberts, B. Lai, 2011, Case reports in dentistry.

Carpal tunnel syndrome in mucopolysaccharidosis I: a registry‐based cohort study

D. Hutchinson, D. Viskochil, J. Muenzer, 2017, Developmental medicine and child neurology.

The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome)

J. Muenzer, A. R. García, J. Lamsa, 2007, Journal of Inherited Metabolic Disease.

Sulfonylureas: Effects in Vivo and in Vitro

S. Wolfe, I. Goldfine, L. Grauer, 1971 .

Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report

J. DaCosta, J. Muenzer, D. Treco, 2002, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Bronchoscopy and airway management in patients with mucopolysaccharidoses (MPS)

J. Muenzer, M. Muhlebach, Kathleen A. Abode, 2013, Pediatric pulmonology.

Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin‐Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator

Warren A. Cheung, E. Shoubridge, A. Gingras, 2016, Human mutation.

Self-complementary adeno-associated virus serotype 2 vector: global distribution and broad dispersion of AAV-mediated transgene expression in mouse brain.

R. Samulski, J. Muenzer, H. Fu, 2003, Molecular therapy : the journal of the American Society of Gene Therapy.

A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome).

S. McCandless, J. Muenzer, T. Schuetz, 2007, Molecular genetics and metabolism.

A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome

Nan Wang, B. Burton, C. Hendriksz, 2015 .

Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice

J. Muenzer, H. Fu, D. Mccarty, 2009, Gene Therapy.

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.

J. H. van der Lee, Darren T. Janzen, R. Giugliani, 2017, Molecular genetics and metabolism.

Severe mitral insufficiency in mucopolysaccharidosis type III-B (Sanfilippo syndrome)

J. Muenzer, R. Beekman, E. Bove, 1993, Pediatric Cardiology.

Correlation of Automated Volumetric Analysis of Brain MR Imaging with Cognitive Impairment in a Natural History Study of Mucopolysaccharidosis II

Zheng Fan, M. Styner, M. Poe, 2010, American Journal of Neuroradiology.

Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.

D. Kerr, J. Muenzer, C. Whitley, 2019, Molecular genetics and metabolism.

Airway Findings in Patients with Hunter Syndrome Treated with Intravenous Idursulfase

J. Muenzer, M. Muhlebach, Tamy Tsujimoto, 2023, Journal of clinical medicine.

Hepatosplenomegaly in an 8-month-old child

Zheng Fan, A. Basinger, J. Muenzer, 2006 .

First-in-human in vivo genome editing via AAV-zinc finger nucleases for mucopolysaccharidosis I/II and hemophilia B.

B. Burton, C. Kessler, D. Rouy, 2022, Molecular therapy : the journal of the American Society of Gene Therapy.

Inborn Errors of Metabolism: Mucopolysaccharidoses and Others

B. Vaughn, Zheng Fan, J. Muenzer, 2021 .

Progression of Polysomnographic Abnormalities in Mucolipidosis II (I-Cell Disease).

B. Vaughn, J. Muenzer, C. Loughlin, 2016, Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine.

Relationship of sleep to pulmonary function in mucopolysaccharidosis II.

B. Vaughn, J. Muenzer, M. Muhlebach, 2013, The Journal of pediatrics.

Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.

J. Booker, A. Basinger, D. Koeberl, 2006, Molecular genetics and metabolism.

A man with type III glycogenosis associated with cirrhosis and portal hypertension.

A. Markowitz, J. Muenzer, Y. T. Chen, 1993, Gastroenterology.

Metabonomics reveals altered metabolites related to inflammation and energy utilization at recovery of cystic fibrosis lung exacerbation

T. Kelley, J. Muenzer, W. Sha, 2019, Metabolism open.

Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study.

J. Muenzer, P. Harmatz, F. Ezgü, 2022, Molecular genetics and metabolism.

A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.

J. Muenzer, C. Whitley, M. Cleary, 2021, Molecular genetics and metabolism.

CHAMPIONS: A phase 1/2 clinical trial with dose escalation of SB-913 ZFN-mediated in vivo human genome editing for treatment of MPS II (Hunter syndrome)

B. Burton, J. Muenzer, C. Whitley, 2019, Molecular Genetics and Metabolism.

Update on phase 1/2 clinical trials for MPS I and MPS II using ZFN-mediated in vivo genome editing

B. Burton, N. Leslie, J. Muenzer, 2018 .

Response to: Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome

J. Eisengart, J. Muenzer, C. Whitley, 2020, Molecular genetics and metabolism reports.

The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: item reduction and further validation

I. Wiklund, J. Muenzer, D. Whiteman, 2014, Quality of Life Research.

Associated With Cirrhosis and

Yuan-Tsong Chen, A. Markowitz, J. Muenzer, 1993 .

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.

P. Kaplan, D. Stockton, B. Burton, 2017, The Journal of pediatrics.

Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report

J. Muenzer, D. Treco, J. Lamsa, 2002, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Hunter syndrome: to treat or not to treat

J. Muenzer, A. Martins, 2008, Acta paediatrica.

Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses.

J. Muenzer, M. Dant, N. Ellinwood, 2024, Molecular genetics and metabolism.