Raymond Y. Wang

发表

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Undiagnosed Diseases Network, J. Rosenfeld, I. Scheffer, 2020, Journal of inherited metabolic disease.

Diffusion tensor imaging and myelin composition analysis reveal abnormal myelination in corpus callosum of canine mucopolysaccharidosis I

James M. Provenzale, Igor Nestrasil, David Elashoff, 2015, Experimental Neurology.

Cystic Diseases of the Kidney

Raymond Y. Wang, D. Puliyanda, A. Sun, 2013 .

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I

J. Esko, P. Dickson, M. Vera, 2016, PloS one.

A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease.

C. Whitley, P. Harmatz, Raymond Y. Wang, 2018, Molecular genetics and metabolism.

Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life

W. Wilcox, J. Mirocha, Raymond Y. Wang, 2007, Genetics in Medicine.

Unique medical issues in adult patients with mucopolysaccharidoses.

John J. Mitchell, D. Rapoport, B. Burton, 2016, European journal of internal medicine.

Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis

Sharon H. Hrynkow, C. Hastings, Benny Liu, 2019, Orphanet Journal of Rare Diseases.

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

W. Sly, B. Graham, K. White, 2016, Journal of Medical Genetics.

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

I. Scheffer, J. Mink, S. Berkovic, 2020, Orphanet Journal of Rare Diseases.

Carotid intima-media thickness is increased in patients with mucopolysaccharidoses.

A. Chang, R. Newcomb, Raymond Y. Wang, 2011, Molecular genetics and metabolism.

Aortic Root Dilatation in Mucopolysaccharidosis I–VII

P. Renella, Raymond Y. Wang, M. Bolourchi, 2016, International journal of molecular sciences.

Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs

E. Braunlin, Raymond Y. Wang, 2016, Heart.

CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness

N. Dalton, J. Davis-Turak, S. Kan, 2020, Scientific Reports.

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.

Joshua L. Deignan, S. Cederbaum, J. Abdenur, 2012, Molecular genetics and metabolism.

The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII.

V. Sutton, E. Martins, C. Whitley, 2020, Molecular genetics and metabolism.

Carotid intima-media thickness is increased in patients with treated mucopolysaccharidosis types I and II, and correlates with arterial stiffness.

J. Steinberger, K. Rudser, A. Kelly, 2014, Molecular genetics and metabolism.

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.

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

Sharyn A. Lincoln, F. Zou, L. Medne, 2017, Journal of neurogenetics.

Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.

D. Ory, J. Schaffer, C. Lourenço, 2020, Molecular genetics and metabolism.

Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.

C. Vite, D. Ory, J. Schaffer, 2020, Molecular genetics and metabolism.

Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II.

J. Abdenur, P. Schwartz, Raymond Y. Wang, 2009, Molecular genetics and metabolism.

Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population

C. Whitley, P. Harmatz, Raymond Y. Wang, 2019, JIMD reports.

CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease

N. Dalton, J. Davis-Turak, S. Kan, 2022, bioRxiv.

CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset cardiomyopathy and impaired skeletal muscle function

N. Dalton, J. Davis-Turak, S. Kan, 2019, bioRxiv.

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.

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

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

A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.

V. Kimonis, E. McCabe, W. Kulik, 2013, JIMD reports.

Ehlers–Danlos type VIII, periodontitis‐type: Further delineation of the syndrome in a four‐generation pedigree

D. Rimoin, W. Wilcox, Raymond Y. Wang, 2011, American journal of medical genetics. Part A.

A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations

Raymond Y. Wang, 2020, International journal of neonatal screening.

Chapter 92 – Amino Acid Metabolism

S. Cederbaum, W. Wilcox, Raymond Y. Wang, 2013 .

Isolated Sulfite Oxidase Deficiency: Response to Dietary Treatment in a Patient with Severe Neonatal Presentation

J. Abdenur, Raymond Y. Wang, M. Sowa, 2019, Journal of Inborn Errors of Metabolism and Screening.

Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs

Lachlan J. Smith, M. Haskins, E. Schuchman, 2016, PloS one.

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

M. Watson, W. Wilcox, O. Bodamer, 2011, Genetics in Medicine.

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.

Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal‐Onset Recurrent Metabolic Decompensation

N. Matsumoto, M. Shiina, K. Ogata, 2013, Human mutation.

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series

P. Gissen, N. Specchio, R. Shediac, 2020, Journal of child neurology.

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

Ellen F. Macnamara, Ryan K. Dale, Pedro P. Rocha, 2021, Science Advances.

Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.

R. Taft, J. Abdenur, B. Braffman, 2019, Molecular genetics and metabolism.

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

J. Shendure, D. Nickerson, Martin Kircher, 2017, Mitochondrion.

Free sialic acid storage disorder: Progress and promise

M. Lek, R. Zoncu, M. Patterson, 2021, Neuroscience Letters.

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

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

CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness

N. Dalton, J. Davis-Turak, S. Kan, 2020, Scientific Reports.

Regulation of human development by ubiquitin chain editing of chromatin remodelers

Ellen F. Macnamara, Ryan K. Dale, Pedro P. Rocha, 2020, bioRxiv.

Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases

F. Platt, Raymond Y. Wang, W. Evans, 2017, Wellcome open research.

Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease

J. Steinberger, M. Shinawi, K. Rudser, 2020, Orphanet Journal of Rare Diseases.

Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency

D. Kerr, G. Grahame, J. Bedoyan, 2014, Molecular genetics and metabolism reports.

A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene

J. Abdenur, W. Nyhan, Raymond Y. Wang, 2017, Nucleosides, nucleotides & nucleic acids.

Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis.

R. Edwards, Valerie Lew, Raymond Y. Wang, 2018, JIMD reports.

Characterization of disease-specific chondroitin sulfate non-reducing end accumulation in mucopolysaccharidosis IVA.

B. Burton, M. Pasquali, R. Lawrence, 2020, Glycobiology.

Features of brain MRI in dogs with treated and untreated mucopolysaccharidosis type I.

Igor Nestrasil, James M Provenzale, C. Vite, 2013, Comparative medicine.

Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation

C. Glass, S. Selleck, J. Esko, 2022, The Journal of biological chemistry.

Intra-articular enzyme replacement therapy with rhIDUA is safe, well-tolerated, and reduces articular GAG storage in the canine model of mucopolysaccharidosis type I.

J. Esko, M. Mcentee, P. Dickson, 2014, Molecular genetics and metabolism.

Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass

J. Abdenur, A. Chang, Raymond Y. Wang, 2014, World Journal of Pediatrics.

D‐glyceric aciduria is caused by genetic deficiency of D‐glycerate kinase (GLYCTK)

J. Sass, E. Christensen, Raymond Y. Wang, 2010, Human mutation.

A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations.

Raymond Y. Wang, 2020, International journal of neonatal screening.

ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients

J. Shendure, D. Nickerson, Martin Kircher, 2016, Human mutation.

Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation

H. Freeze, Christina Lam, L. Wolfe, 2023, Journal of inherited metabolic disease.

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.

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.

M. Hegde, H. Freeze, J. Abdenur, 2013, Molecular genetics and metabolism.

Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study

A. Moser, D. Shrier, H. Waterham, 2014, Journal of Inherited Metabolic Disease.

A novel, randomized, placebo-controlled, blind-start, single-crossover phase 3 study to assess the efficacy and safety of UX003 (rhGUS) enzyme replacement therapy in patients with MPS VII

Karen Jacobs, C. Whitley, P. Harmatz, 2017 .

Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics.

J. Wheless, E. Berry-Kravis, E. Augustine, 2020, Pediatric neurology.

Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency

H. Waterham, J. Abdenur, Cristel C. Chapel-Crespo, 2020, Molecular Genetics and Metabolism Reports.

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

Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene.

S. Kan, Raymond Y. Wang, Allisandra K. Rha, 2023, Stem cell research.

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

S. Mooney, M. Hegde, L. Gort, 2014, Molecular genetics and metabolism.

Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.

J. Abdenur, P. Rinaldo, D. Matern, 2010, Molecular genetics and metabolism.

Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases

F. Platt, J. Sheth, Raymond Y. Wang, 2017, Wellcome open research.

Growth patterns in patients with mucopolysaccharidosis VII

D. Marsden, P. Harmatz, Raymond Y. Wang, 2023, Molecular genetics and metabolism reports.

Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs

E. Braunlin, Raymond Y. Wang, 2016, Heart.

Base editing corrects the common Salla disease SLC17A5 c.115C>T variant

Raymond Y. Wang, R. Steet, Allisandra K. Rha, 2023, Molecular therapy. Nucleic acids.

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

Sharyn A. Lincoln, F. Zou, L. Medne, 2017, Journal of neurogenetics.