S. Young

发表

Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid α-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease

Yuan-Tsong Chen, D. Millington, D. Bali, 2006, Genetics in Medicine.

A convenient LC-MS method for assessment of glucose kinetics in vivo with D-[13C6]glucose as a tracer.

R. Boston, R. Stevens, R. Surwit, 2009, Clinical Chemistry.

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.

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

Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

D. Oglesbee, Marcus J Miller, Marcus J. Miller, 2020, Genetics in Medicine.

Quantification of Creatine and Guanidinoacetate Using GC‐MS and LC‐MS/MS for the Detection of Cerebral Creatine Deficiency Syndromes

E. Struys, T. Wood, S. Young, 2007, Current protocols in human genetics.

Potential mechanisms for low uric acid in Parkinson disease

S. Factor, H. Jinnah, D. Millington, 2016, Journal of neural transmission.

Individual responses to chemotherapy-induced oxidative stress

J. Marks, M. Dewhirst, D. Millington, 2010, Breast Cancer Research and Treatment.

Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.

M. Avantaggiati, M. McDonald, M. Paige, 2015, JIMD reports.

Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

J. Vockley, M. McDonald, N. Gregersen, 2003, Pediatric Research.

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

J. Oliveira, W. Hwu, D. Warnock, 2010, Clinica chimica acta; international journal of clinical chemistry.

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring

D. Bali, P. Kishnani, S. Austin, 2019, Genetics in Medicine.

Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics

N. Longo, O. Bodamer, S. Tortorelli, 2017, Genetics in Medicine.

Urinary Biomarkers of Oxidative Status in a Clinical Model of Oxidative Assault

P. Marcom, D. Millington, I. Spasojević, 2010, Cancer Epidemiology, Biomarkers & Prevention.

Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2-/- mouse model.

Jeong-A Lim, D. Bali, A. Asokan, 2021, Molecular genetics and metabolism.

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

D. Bailey, C. Powell, C. Rehder, 2020, JAMA network open.

Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis☆

D. Koeberl, E. Bossen, J. Goldstein, 2015, Molecular genetics and metabolism reports.

Bezafibrate Enhances AAV Vector-Mediated Genome Editing in Glycogen Storage Disease Type Ia

D. Koeberl, S. Young, Dustin J. Landau, 2019, Molecular therapy. Methods & clinical development.

Adjunctive β2‐agonist treatment reduces glycogen independently of receptor‐mediated acid α‐glucosidase uptake in the limb muscles of mice with Pompe disease

Lauran R. Madden, N. Bursac, Songtao Li, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Kinetic and Cross-Sectional Studies on the Genesis of Hypoargininemia in Severe Pediatric Plasmodium falciparum Malaria

T. Yeo, N. Anstey, J. Thompson, 2019, Infection and Immunity.

Quantification of the oxidative damage biomarker 2,3-dinor-8-isoprostaglandin-F(2alpha) in human urine using liquid chromatography-tandem mass spectrometry.

D. Millington, D. Il'yasova, Judit Sztáray, 2010, Analytical biochemistry.

Allantoin in human urine quantified by ultra-performance liquid chromatography-tandem mass spectrometry.

D. Millington, D. Il'yasova, Judit Sztáray, 2010, Analytical biochemistry.

Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease.

D. Millington, Y. Chen, J. V. Van Hove, 2000, Analytical biochemistry.

Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease.

M. Kulis, Songtao Li, D. Koeberl, 2010, Molecular therapy : the journal of the American Society of Gene Therapy.

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

H. Mandel, D. Bali, Jennifer S. Li, 2010, Molecular genetics and metabolism.

Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy.

R. Auten, Songtao Li, Zhen Yan, 2008, Molecular therapy : the journal of the American Society of Gene Therapy.

Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II.

D. Koeberl, D. K. Benjamin, Baodong Sun, 2006, Molecular therapy : the journal of the American Society of Gene Therapy.

Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance.

D. Koeberl, P. Kishnani, Baodong Sun, 2007, American journal of human genetics.

Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II.

D. Koeberl, A. Amalfitano, Baodong Sun, 2005, Molecular therapy : the journal of the American Society of Gene Therapy.

Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.

D. Koeberl, A. Amalfitano, T. Clay, 2005, Molecular therapy : the journal of the American Society of Gene Therapy.

Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia

J. V. Van Hove, Suhong Tong, S. Young, 2022, Journal of inherited metabolic disease.

A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.

N. Gregersen, R. Stevens, D. Millington, 2003, Clinica chimica acta; international journal of clinical chemistry.

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.

Systemic Markers of Oxidative Status and the Risk of Type 2 Diabetes

L. Wagenknecht, R. D'Agostino, D. Millington, 2010 .

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.

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

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

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.

Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI.

D. Millington, J. Clarke, C. Auray-Blais, 2011, Molecular genetics and metabolism.

Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia

D. Koeberl, P. Yen, Yajun Wu, 2018, Human molecular genetics.

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.

C. Rehder, M. McDonald, D. Bali, 2020, Molecular genetics and metabolism.

Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high‐level vector‐mediated transgene expression

Songtao Li, D. Koeberl, Baodong Sun, 2009, The journal of gene medicine.

Comparisons of Infant and Adult Mice Reveal Age Effects for Liver Depot Gene Therapy in Pompe Disease

J. Everitt, Songtao Li, Angela L McCall, 2019, Molecular therapy. Methods & clinical development.

Assessment of toxicity and biodistribution of recombinant AAV8 vector–mediated immunomodulatory gene therapy in mice with Pompe disease

Songtao Li, D. Bali, D. Koeberl, 2014, Molecular therapy. Methods & clinical development.

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.

Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.

J. Eisengart, Agnes H. Chen, P. Dickson, 2014, Molecular genetics and metabolism.

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.

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.

Combined analysis of plasma or serum glucosylsphingosine and globotriaosylsphingosine by UPLC-MS/MS.

Haoyue Zhang, S. Young, Ashlee R. Stiles, 2020, Clinica chimica acta; international journal of clinical chemistry.

Glycocalyx breakdown is increased in African children with cerebral and uncomplicated falciparum malaria

T. Yeo, N. Anstey, D. Millington, 2019, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Urinary F2-Isoprostanes as a Biomarker of Reduced Risk of Type 2 Diabetes

L. Wagenknecht, R. D'Agostino, D. Millington, 2011, Diabetes Care.

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.

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.

Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease

R. Schiffmann, D. Millington, J. Clarke, 2009, Journal of Inherited Metabolic Disease.

Quantitative computed tomography for enzyme replacement therapy in Pompe disease

E. Nanba, Y. Maegaki, I. Higuchi, 2012, Brain and Development.

A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: an improved clinical screening test for the mucopolysaccharidoses.

D. Millington, T. Wood, Haoyue Zhang, 2015, Molecular genetics and metabolism.

Analysis of glycosaminoglycans in cerebrospinal fluid from patients with mucopolysaccharidoses by isotope-dilution ultra-performance liquid chromatography-tandem mass spectrometry.

J. Tolar, D. Millington, P. Orchard, 2011, Clinical chemistry.

MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment.

E. Entchev, A. Roussey, Haoyue Zhang, 2021, Molecular genetics and metabolism.

Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

M. Bennett, D. Matern, on behalf of the Acmg Laboratory Quality Assurance Committee, 2018, Genetics in Medicine.

Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy.

D. Millington, Agnes H. Chen, P. Dickson, 2020, Clinica chimica acta; international journal of clinical chemistry.

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.

F. Baas, R. Hennekam, S. Denis, 2014, Human molecular genetics.

reductase deficiency with hyperlysinemia

F. Baas, S. Denis, S. Houten, 2014 .

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.

Fenofibrate rapidly decreases hepatic lipid and glycogen storage in neonatal mice with glycogen storage disease type Ia.

B. Bay, D. Koeberl, P. Yen, 2019, Human molecular genetics.

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.

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

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

Urine gastrin‐releasing peptide in the first week correlates with bronchopulmonary dysplasia and post‐prematurity respiratory disease

B. Poindexter, A. Herring, A. Hamvas, 2020, Pediatric pulmonology.

Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease.

M. Tarnopolsky, B. Hettinga, J. Kaczor, 2015, Free radical biology & medicine.

An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper.

B. Maranda, D. Millington, J. Clarke, 2012, Clinica chimica acta; international journal of clinical chemistry.

Quantification of Glycosaminoglycans in Urine by Isotope‐Dilution Liquid Chromatography‐Electrospray Ionization Tandem Mass Spectrometry

Haoyue Zhang, S. Young, David S. Millington, 2013, Current protocols in human genetics.

Gb(3)/creatinine biomarkers for Fabry disease: issues to consider.

K. Mills, D. Millington, J. Clarke, 2009, Molecular genetics and metabolism.

Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial

U. Christians, K. Moreau, L. Pyle, 2019, Journal of inherited metabolic disease.

Rescue of glutaric aciduria type I in mice by liver-directed therapies

R. Rodriguiz, W. Wetsel, K. Bissig, 2023, Science Translational Medicine.

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.

D. Millington, A. Schlune, D. Koeberl, 2013, 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.

Glycocalyx Breakdown Is Associated With Severe Disease and Fatal Outcome in Plasmodium falciparum Malaria

R. Price, E. Kenangalem, T. Yeo, 2019, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Charles Darwin University Glycocalyx Breakdown Is Associated With Severe Disease and Fatal Outcome in Plasmodium falciparum Malaria

E. Kenangalem, Y. Zhang, D. Millington, 2019 .

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.

Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry.

Yuan-Tsong Chen, R. Stevens, D. Millington, 2003, Analytical biochemistry.

Response to Heiner-Fokkema et al.

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

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort

P. Laforêt, R. Froissart, B. Chabrol, 2020, Molecular genetics and metabolism reports.

Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

R. Wanders, B. Andresen, N. Gregersen, 2006, Pediatric Research.

Histopathology and SARS-CoV-2 Cellular Localization in Eye Tissues of COVID-19 Autopsies

Kwe Claude Yinda, S. Pittaluga, Y. Sangwan, 2023, The American Journal of Pathology.

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

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

7. An efficient high-risk screening protocol for Fabry disease

D. Millington, J. Clarke, C. Auray-Blais, 2009 .