Raymond Yu-Jeang Wang

Title(s)Associate Health Sciences Professor, Pediatrics
SchoolSchool of Medicine
Address1001 Health Sciences Road
Irvine CA 92697-3950
Phone(714) 509-8852
ORCID ORCID Icon0000-0001-6494-7613 Additional info
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    Collapse Biography 
    Collapse Education and Training
    Leland Stanford Jr. University, Stanford, CABS6/1997Biological Sciences
    University of California-Los Angeles School of Medicine, Los Angeles, CAMD6/2001Medicine
    Cedars-Sinai Medical Center, Los Angeles, CA9/2006Clinical Genetics / Pediatrics
    University of California-Los Angeles Intercampus Medical Genetics Training Program, Los Angeles, CA9/2007Clinical Biochemical Genetics

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program. Orphanet J Rare Dis. 2024 May 07; 19(1):189. Giugliani R, Gonzalez-Meneses A, Scarpa M, Burton B, Wang R, Martins E, Oussoren E, Hennermann JB, Chabrol B, Grant CL, Sun A, Durand C, Hetzer J, Malkus B, Marsden D, Merritt Ii JL. PMID: 38715031; PMCID: PMC11077874.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation. Front Immunol. 2024; 15:1360369. Desai AK, Shrivastava G, Grant CL, Wang RY, Burt TD, Kishnani PS. PMID: 38524130; PMCID: PMC10959098.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI-LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT). Mol Genet Metab Rep. 2024 Mar; 38:101041. Sohn YB, Wang R, Ashworth J, Broqua P, Tallandier M, Abitbol JL, Jozwiak E, Pollard L, Wood TC, Aslam T, Harmatz PR. PMID: 38234862; PMCID: PMC10792263.
      View in: PubMed   Mentions:
    4. Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease. Mol Genet Metab. 2024 Feb; 141(2):108119. Kenney-Jung D, Korlimarla A, Spiridigliozzi GA, Wiggins W, Malinzak M, Nichting G, Jung SH, Sun A, Wang RY, Al Shamsi A, Phornphutkul C, Owens J, Provenzale JM, Kishnani PS. PMID: 38184429.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    5. Base editing corrects the common Salla disease SLC17A5 c.115C>T variant. Mol Ther Nucleic Acids. 2023 Dec 12; 34:102022. Harb JF, Christensen CL, Kan SH, Rha AK, Andrade-Heckman P, Pollard L, Steet R, Huang JY, Wang RY. PMID: 37727271; PMCID: PMC10506058.
      View in: PubMed   Mentions: 1  
    6. Growth patterns in patients with mucopolysaccharidosis VII. Mol Genet Metab Rep. 2023 Sep; 36:100987. Montaño AM, Rózdzynska-Swiatkowska A, Jurecka A, Ramirez AN, Zhang L, Marsden D, Wang RY, Harmatz P. PMID: 37415957; PMCID: PMC10320588.
      View in: PubMed   Mentions:
    7. 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. Stem Cell Res. 2023 06; 69:103117. Christensen C, Heckman P, Rha A, Kan SH, Harb J, Wang R. PMID: 37167752; PMCID: PMC10281086.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    8. Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation. J Inherit Metab Dis. 2023 03; 46(2):326-334. Dang Do AN, Chang IJ, Jiang X, Wolfe LA, Ng BG, Lam C, Schnur RE, Allis K, Hansikova H, Ondruskova N, O'Connor SD, Sanchez-Valle A, Vollo A, Wang RY, Wolfenson Z, Perreault J, Ory DS, Freeze HH, Merritt JL, Porter FD. PMID: 36719165; PMCID: PMC10023375.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    9. 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. Sci Rep. 2022 12 14; 12(1):21576. Kan SH, Huang JY, Harb J, Rha A, Dalton ND, Christensen C, Chan Y, Davis-Turak J, Neumann J, Wang RY. PMID: 36517654; PMCID: PMC9751086.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimals
    10. Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation. J Biol Chem. 2022 08; 298(8):102159. Tillo M, Lamanna WC, Dwyer CA, Sandoval DR, Pessentheiner AR, Al-Azzam N, Sarrazin S, Gonzales JC, Kan SH, Andreyev AY, Schultheis N, Thacker BE, Glass CA, Dickson PI, Wang RY, Selleck SB, Esko JD, Gordts PLSM. PMID: 35750212; PMCID: PMC9364035.
      View in: PubMed   Mentions: 1     Fields:    Translation:Animals
    11. Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort. Cardiol Young. 2022 Mar; 32(3):364-373. Byrne BJ, Colan SD, Kishnani PS, Foster MC, Sparks SE, Gibson JB, An Haack K, Stockton DW, Peña LDM, Hahn SH, Johnson J, Tanpaiboon PX, Leslie ND, Kronn D, Hillman RE, Wang RY, Pompe ADVANCE Study Consortium. PMID: 34420548.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCTClinical Trials
    12. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. Orphanet J Rare Dis. 2021 04 21; 16(1):185. Mole SE, Schulz A, Badoe E, Berkovic SF, de Los Reyes EC, Dulz S, Gissen P, Guelbert N, Lourenco CM, Mason HL, Mink JW, Murphy N, Nickel M, Olaya JE, Scarpa M, Scheffer IE, Simonati A, Specchio N, Von Löbbecke I, Wang RY, Williams RE. PMID: 33882967; PMCID: PMC8059011.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    13. Free sialic acid storage disorder: Progress and promise. Neurosci Lett. 2021 06 11; 755:135896. Huizing M, Hackbarth ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA, FSASD Consortium. PMID: 33862140; PMCID: PMC8175077.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimals
    14. To John M. Graham Jr, who called me into a career in clinical genetics. Am J Med Genet A. 2021 09; 185(9):2646-2648. Wang RY. PMID: 33844456.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    15. Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation. Sci Adv. 2021 01; 7(4). Beck DB, Basar MA, Asmar AJ, Thompson JJ, Oda H, Uehara DT, Saida K, Pajusalu S, Talvik I, D'Souza P, Bodurtha J, Mu W, Barañano KW, Miyake N, Wang R, Kempers M, Tamada T, Nishimura Y, Okada S, Kosho T, Dale R, Mitra A, Macnamara E, Undiagnosed Diseases Network, Matsumoto N, Inazawa J, Walkiewicz M, Õunap K, Tifft CJ, Aksentijevich I, Kastner DL, Rocha PP, Werner A. PMID: 33523931; PMCID: PMC7817106.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    16. Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series. J Child Neurol. 2021 05; 36(6):468-474. Wibbeler E, Wang R, Reyes EL, Specchio N, Gissen P, Guelbert N, Nickel M, Schwering C, Lehwald L, Trivisano M, Lee L, Amato G, Cohen-Pfeffer J, Shediac R, Leal-Pardinas F, Schulz A. PMID: 33356800; PMCID: PMC8027928.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    17. Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1. Mol Genet Metab. 2020 12; 131(4):405-417. Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Wang RY, Movsesyan N, Plummer E, Schaffer JE, Ory DS, Jiang X. PMID: 33257258; PMCID: PMC8139135.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    18. Pediatric Tracheal Lobular Capillary Hemangioma: A Case Report and Review of the Literature. Laryngoscope. 2021 08; 131(8):1729-1731. Wang RY, Quintanilla NM, Chumpitazi BP, Gitomer S, Chiou EH, Ongkasuwan J. PMID: 32918757.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    19. Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):181-196. van der Lee JH, Morton J, Adams HR, Clarke L, Eisengart JB, Escolar ML, Giugliani R, Harmatz P, Hogan M, Kearney S, Muenzer J, Muschol N, Rust S, Saville BR, Semrud-Clikeman M, Wang R, Shapiro E. PMID: 32917509.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    20. Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227]. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):285. Wang RY, da Silva Franco JF, López-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz P. PMID: 32843286.
      View in: PubMed   Mentions:    Fields:    
    21. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis. 2020 11; 43(6):1333-1348. Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG), Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH. PMID: 32681751; PMCID: PMC7722193.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    22. Characterization of disease-specific chondroitin sulfate nonreducing end accumulation in mucopolysaccharidosis IVA. Glycobiology. 2020 07 20; 30(7):433-445. Lawrence R, Prill H, Vachali PP, Adintori EG, de Hart G, Wang RY, Burton BK, Pasquali M, Crawford BE. PMID: 31897472.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    23. CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness. Sci Rep. 2020 Jun 25; 10(1):10321. Huang JY, Kan SH, Sandfeld EK, Dalton ND, Rangel AD, Chan Y, Davis-Turak J, Neumann J, Wang RY. PMID: 32587263; PMCID: PMC7316971.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimals
    24. Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency. Mol Genet Metab Rep. 2020 Sep; 24:100608. Chapel-Crespo CC, Villalba R, Wang R, Boyer M, Chang R, Waterham HR, Abdenur JE. PMID: 32528852; PMCID: PMC7280558.
      View in: PubMed   Mentions: 3  
    25. Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics. Pediatr Neurol. 2020 09; 110:64-70. de Los Reyes E, Lehwald L, Augustine EF, Berry-Kravis E, Butler K, Cormier N, Demarest S, Lu S, Madden J, Olaya J, See S, Vierhile A, Wheless JW, Yang A, Cohen-Pfeffer J, Chu D, Leal-Pardinas F, Wang RY. PMID: 32684372.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    26. Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease. Orphanet J Rare Dis. 2020 03 17; 15(1):73. Wang RY, Rudser KD, Dengel DR, Evanoff N, Steinberger J, Movsesyan N, Garrett R, Christensen K, Boylan D, Braddock SR, Shinawi M, Gan Q, Montaño AM. PMID: 32183856; PMCID: PMC7079365.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    27. A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations. Int J Neonatal Screen. 2020 03; 6(1):22. Wang RY. PMID: 33073019; PMCID: PMC7422979.
      View in: PubMed   Mentions: 2  
    28. Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. Mol Genet Metab. 2020 04; 129(4):292-302. Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Vite CH, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Bodamer O, Wang RY, Plummer E, Schaffer JE, Ory DS, Jiang X. PMID: 32033912; PMCID: PMC7145728.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansAnimals
    29. The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII. Mol Genet Metab. 2020 03; 129(3):219-227. Wang RY, da Silva Franco JF, López-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz P. PMID: 32063397.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCTClinical Trials
    30. Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis. Orphanet J Rare Dis. 2019 10 21; 14(1):228. Hastings C, Vieira C, Liu B, Bascon C, Gao C, Wang RY, Casey A, Hrynkow S. PMID: 31639011; PMCID: PMC6805667.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    31. Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population. JIMD Rep. 2019 Sep; 49(1):53-62. Haller C, Song W, Cimms T, Chen CY, Whitley CB, Wang RY, Bauer M, Harmatz P. PMID: 31497482; PMCID: PMC6718107.
      View in: PubMed   Mentions: 7  
    32. Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease. Genet Med. 2019 11; 21(11):2543-2551. Kishnani PS, Gibson JB, Gambello MJ, Hillman R, Stockton DW, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Day JW, Wang RY, Goldstein JL, An Haack K, Sparks SE, Zhao Y, Hahn SH, Pompe ADVANCE Study Consortium. PMID: 31086307; PMCID: PMC8076035.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    33. Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes. Mol Genet Metab. 2019 01; 126(1):53-63. Simon MT, Eftekharian SS, Stover AE, Osborne AF, Braffman BH, Chang RC, Wang RY, Steenari MR, Tang S, Hwu PW, Taft RJ, Benke PJ, Abdenur JE. PMID: 30473481; PMCID: PMC7707637.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    34. Understanding sociodemographic factors related to health outcomes in pediatric obstructive sleep apnea. Int J Pediatr Otorhinolaryngol. 2018 Aug; 111:138-141. Xie DX, Wang RY, Penn EB, Chinnadurai S, Shannon CN, Wootten CT. PMID: 29958597.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    35. 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. Genet Med. 2018 10; 20(10):1284-1294. Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, Gibson JB, Hillman R, Stockton DW, Day JW, Wang RY, An Haack K, Shafi R, Sparks S, Zhao Y, Wilson C, Kishnani PS, Pompe ADVANCE Study Consortium. PMID: 29565424.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCTClinical Trials
    36. A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease. Mol Genet Metab. 2018 04; 123(4):488-494. Harmatz P, Whitley CB, Wang RY, Bauer M, Song W, Haller C, Kakkis E. PMID: 29478819.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCTClinical Trials
    37. Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy. Mol Genet Metab. 2018 02; 123(2):85-91. McIntosh PT, Hobson-Webb LD, Kazi ZB, Prater SN, Banugaria SG, Austin S, Wang R, Enterline DS, Frush DP, Kishnani PS. PMID: 29050825; PMCID: PMC5808895.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    38. Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases. Wellcome Open Res. 2017; 2:75. Evans WRH, Nicoli ER, Wang RY, Movsesyan N, Platt FM. PMID: 29119141; PMCID: PMC5649119.
      View in: PubMed   Mentions: 5  
    39. Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease. JCI Insight. 2017 Aug 17; 2(16). Kazi ZB, Desai AK, Berrier KL, Troxler RB, Wang RY, Abdul-Rahman OA, Tanpaiboon P, Mendelsohn NJ, Herskovitz E, Kronn D, Inbar-Feigenberg M, Ward-Melver C, Polan M, Gupta P, Rosenberg AS, Kishnani PS. PMID: 28814660; PMCID: PMC5621909.
      View in: PubMed   Mentions: 33     Fields:    
    40. Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis. JIMD Rep. 2018; 39:31-37. Lew V, Pena L, Edwards R, Wang RY. PMID: 28702876; PMCID: PMC5953895.
      View in: PubMed   Mentions: 6  
    41. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. J Neurogenet. 2017 Mar - Jun; 31(1-2):30-36. Zou F, McWalter K, Schmidt L, Decker A, Picker JD, Lincoln S, Sweetser DA, Briere LC, Harini C, Members of the Undiagnosed Diseases Network, Marsh E, Medne L, Wang RY, Leydiker K, Mower A, Visser G, Cuppen I, van Gassen KL, van der Smagt J, Yousaf A, Tennison M, Shanmugham A, Butler E, Richard G, McKnight D. PMID: 28460589; PMCID: PMC6169784.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    42. The Carotid Intima-Media Thickness and Arterial Stiffness of Pediatric Mucopolysaccharidosis Patients Are Increased Compared to Both Pediatric and Adult Controls. Int J Mol Sci. 2017 Mar 15; 18(3). Wang RY, Rudser KD, Dengel DR, Braunlin EA, Steinberger J, Jacobs DR, Sinaiko AR, Kelly AS. PMID: 28294991; PMCID: PMC5372650.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    43. Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion. 2017 05; 34:84-90. Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics, Van Hove JLK, Freeze HH, Abdenur JE. PMID: 28216230; PMCID: PMC5444868.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    44. A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene. Nucleosides Nucleotides Nucleic Acids. 2017 May 04; 36(5):317-327. Nguyen KV, Leydiker K, Wang R, Abdenur J, Nyhan WL. PMID: 28102781.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    45. Aortic Root Dilatation in Mucopolysaccharidosis I-VII. Int J Mol Sci. 2016 Nov 29; 17(12). Bolourchi M, Renella P, Wang RY. PMID: 27916847; PMCID: PMC5187804.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    46. Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders. Mol Genet Metab. 2016 11; 119(3):223-231. Vockley J, Charrow J, Ganesh J, Eswara M, Diaz GA, McCracken E, Conway R, Enns GM, Starr J, Wang R, Abdenur JE, Sanchez-de-Toledo J, Marsden DL. PMID: 27590926; PMCID: PMC5083220.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    47. Unique medical issues in adult patients with mucopolysaccharidoses. Eur J Intern Med. 2016 Oct; 34:2-10. Mitchell J, Berger KI, Borgo A, Braunlin EA, Burton BK, Ghotme KA, Kircher SG, Molter D, Orchard PJ, Palmer J, Pastores GM, Rapoport DM, Wang RY, White K. PMID: 27296591.
      View in: PubMed   Mentions: 19  Translation:Humans
    48. Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs. Heart. 2016 08 15; 102(16):1257-62. Braunlin E, Wang R. PMID: 27102649.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    49. Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs. PLoS One. 2016; 11(4):e0153136. Simonaro CM, Tomatsu S, Sikora T, Kubaski F, Frohbergh M, Guevara JM, Wang RY, Vera M, Kang JL, Smith LJ, Schuchman EH, Haskins ME. PMID: 27064989; PMCID: PMC4827827.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansAnimals
    50. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat. 2016 07; 37(7):653-60. Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC, University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH. PMID: 26931382; PMCID: PMC4907823.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    51. Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. PLoS One. 2016; 11(3):e0150850. Khalid O, Vera MU, Gordts PL, Ellinwood NM, Schwartz PH, Dickson PI, Esko JD, Wang RY. PMID: 26986213; PMCID: PMC4795702.
      View in: PubMed   Mentions: 17     Fields:    Translation:Animals
    52. Clinical course of sly syndrome (mucopolysaccharidosis type VII). J Med Genet. 2016 06; 53(6):403-18. Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS. PMID: 26908836; PMCID: PMC4893087.
      View in: PubMed   Mentions: 76     Fields:    Translation:Humans
    53. Diffusion tensor imaging and myelin composition analysis reveal abnormal myelination in corpus callosum of canine mucopolysaccharidosis I. Exp Neurol. 2015 Nov; 273:1-10. Provenzale JM, Nestrasil I, Chen S, Kan SH, Le SQ, Jens JK, Snella EM, Vondrak KN, Yee JK, Vite CH, Elashoff D, Duan L, Wang RY, Ellinwood NM, Guzman MA, Shapiro EG, Dickson PI. PMID: 26222335; PMCID: PMC4644459.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimalsCells
    54. Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency. Mol Genet Metab Rep. 2014; 1:362-367. Deeb KK, Bedoyan JK, Wang R, Sremba L, Schroeder MC, Grahame GJ, Boyer M, McCandless SE, Kerr DS, Zhang S. PMID: 27896109; PMCID: PMC5121365.
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    55. Intra-articular enzyme replacement therapy with rhIDUA is safe, well-tolerated, and reduces articular GAG storage in the canine model of mucopolysaccharidosis type I. Mol Genet Metab. 2014 Aug; 112(4):286-93. Wang RY, Aminian A, McEntee MF, Kan SH, Simonaro CM, Lamanna WC, Lawrence R, Ellinwood NM, Guerra C, Le SQ, Dickson PI, Esko JD. PMID: 24951454; PMCID: PMC4122635.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    56. Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. Mol Genet Metab. 2014 Jun; 112(2):160-70. Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson K, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N. PMID: 24726177; PMCID: PMC4203673.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    57. Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study. J Inherit Metab Dis. 2014 Sep; 37(5):791-9. Wang RY, Monuki ES, Powers J, Schwartz PH, Watkins PA, Shi Y, Moser A, Shrier DA, Waterham HR, Nugent DJ, Abdenur JE. PMID: 24619150; PMCID: PMC4332804.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    58. Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass. World J Pediatr. 2014 Feb; 10(1):83-5. Wang RY, Chang RC, Sowa ME, Chang AC, Abdenur JE. PMID: 24464670.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    59. Carotid intima-media thickness is increased in patients with treated mucopolysaccharidosis types I and II, and correlates with arterial stiffness. Mol Genet Metab. 2014 Feb; 111(2):128-32. Wang RY, Braunlin EA, Rudser KD, Dengel DR, Metzig AM, Covault KK, Polgreen LE, Shapiro E, Steinberger J, Kelly AS. PMID: 24268528; PMCID: PMC3946737.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    60. Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. Mol Genet Metab. 2013 Dec; 110(4):484-9. Lieu MT, Ng BG, Rush JS, Wood T, Basehore MJ, Hegde M, Chang RC, Abdenur JE, Freeze HH, Wang RY. PMID: 24144945; PMCID: PMC3909743.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    61. 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. PLoS One. 2013; 8(6):e67052. Banugaria SG, Prater SN, Patel TT, Dearmey SM, Milleson C, Sheets KB, Bali DS, Rehder CW, Raiman JA, Wang RA, Labarthe F, Charrow J, Harmatz P, Chakraborty P, Rosenberg AS, Kishnani PS. PMID: 23825616; PMCID: PMC3692419.
      View in: PubMed   Mentions: 53     Fields:    Translation:Humans
    62. A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome. JIMD Rep. 2013; 11:99-106. Fan Y, Steller J, Gonzalez IL, Kulik W, Fox M, Chang R, Westerfield BA, Batra AS, Wang RY, Gallant NM, Pena LS, Wang H, Huang T, Bhuta S, Penny DJ, McCabe ER, Kimonis VE. PMID: 23606313; PMCID: PMC3755548.
      View in: PubMed   Mentions: 3  
    63. Features of brain MRI in dogs with treated and untreated mucopolysaccharidosis type I. Comp Med. 2013 Apr; 63(2):163-73. Vite CH, Nestrasil I, Mlikotic A, Jens JK, Snella EM, Gross W, Shapiro EG, Kovac V, Provenzale JM, Chen S, Le SQ, Kan SH, Banakar S, Wang RY, Haskins ME, Ellinwood NM, Dickson PI. PMID: 23582423; PMCID: PMC3625057.
      View in: PubMed   Mentions: 21     Fields:    Translation:Animals
    64. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. Hum Mutat. 2013 Mar; 34(3):446-52. Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Ogata K, Goto Y, Matsumoto N. PMID: 23281071.
      View in: PubMed   Mentions: 44     Fields:    Translation:HumansCells
    65. The emerging phenotype of long-term survivors with infantile Pompe disease. Genet Med. 2012 Sep; 14(9):800-10. Prater SN, Banugaria SG, DeArmey SM, Botha EG, Stege EM, Case LE, Jones HN, Phornphutkul C, Wang RY, Young SP, Kishnani PS. PMID: 22538254; PMCID: PMC3947503.
      View in: PubMed   Mentions: 90     Fields:    Translation:Humans
    66. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol Genet Metab. 2012 May; 106(1):55-61. Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. PMID: 22424739.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansPHPublic Health
    67. Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency. Mol Genet Metab. 2012 May; 106(1):104-7. Williams TB, Daniels M, Puthenveetil G, Chang R, Wang RY, Abdenur JE. PMID: 22424738.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    68. Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards. Mol Genet Metab. 2012 Jan; 105(1):126-31. Puckett RL, Orsini JJ, Pastores GM, Wang RY, Chang R, Saavedra-Matiz CA, Torres PA, Zeng B, Caggana M, Lorey F, Abdenur JE. PMID: 22115770.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansPHPublic Health
    69. Carotid intima-media thickness is increased in patients with mucopolysaccharidoses. Mol Genet Metab. 2011 Dec; 104(4):592-6. Wang RY, Covault KK, Halcrow EM, Gardner AJ, Cao X, Newcomb RL, Dauben RD, Chang AC. PMID: 21963080; PMCID: PMC3924772.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    70. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May; 13(5):457-84. Wang RY, Bodamer OA, Watson MS, Wilcox WR, ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. PMID: 21502868.
      View in: PubMed   Mentions: 77     Fields:    Translation:Humans
    71. Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree. Am J Med Genet A. 2011 Apr; 155A(4):742-7. Reinstein E, Wang RY, Zhan L, Rimoin DL, Wilcox WR. PMID: 21594996.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    72. D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK). Hum Mutat. 2010 Dec; 31(12):1280-5. Sass JO, Fischer K, Wang R, Christensen E, Scholl-Bürgi S, Chang R, Kapelari K, Walter M. PMID: 20949620.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    73. Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms. Mol Genet Metab. 2010 Jun; 100(2):136-42. Puckett RL, Lorey F, Rinaldo P, Lipson MH, Matern D, Sowa ME, Levine S, Chang R, Wang RY, Abdenur JE. PMID: 20307994.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansPHPublic Health
    74. Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II. Mol Genet Metab. 2009 Dec; 98(4):406-11. Wang RY, Cambray-Forker EJ, Ohanian K, Karlin DS, Covault KK, Schwartz PH, Abdenur JE. PMID: 19748810.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    75. Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage. J Inherit Metab Dis. 2008 Dec; 31 Suppl 2:S369-74. Wang RY, Abe JT, Cohen AH, Wilcox WR. PMID: 18937048.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    76. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med. 2007 Jan; 9(1):34-45. Wang RY, Lelis A, Mirocha J, Wilcox WR. PMID: 17224688.
      View in: PubMed   Mentions: 103     Fields:    Translation:Humans
    77. A previously unreported mutation in a Currarino syndrome kindred. Am J Med Genet A. 2006 Sep 15; 140(18):1923-30. Wang RY, Jones JR, Chen S, Rogers RC, Friez MJ, Schwartz CE, Graham JM. PMID: 16906559.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
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