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Author/Creator Wang, Raymond Y.

1. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Issue 7 (21st March 2016)

Authors:
Ng, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; Alehan, Fusun; Midro, Alina T.; Bamshad, Michael J.; Barone, Rita; Berry, Gerard T.; Brumbaugh, Jane E.; Buckingham, Kati J.; Clarkson, Katie; Cole, F. Sessions; O'Connor, Shawn; ...
Journal:
Human mutation
Issue:
Volume 37:Issue 7(2016)
Page Start:
653
Record Type:
Journal Article
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2. Effects of hematopoietic stem cell transplantation on acyl‐CoA oxidase deficiency: a sibling comparison study. Issue 5 (12th March 2014)

Authors:
Wang, Raymond Y.; Monuki, Edwin S.; Powers, James; Schwartz, Phillip H.; Watkins, Paul A.; Shi, Yang; Moser, Ann; Shrier, David A.; Waterham, Hans R.; Nugent, Diane J.; Abdenur, Jose E.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 5(2014)
Page Start:
791
Record Type:
Journal Article
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3. Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation. Issue 2 (3rd February 2023)

Authors:
Dang Do, An N.; Chang, Irene J.; Jiang, Xutian; Wolfe, Lynne A.; Ng, Bobby G.; Lam, Christina; Schnur, Rhonda E.; Allis, Katrina; Hansikova, Hana; Ondruskova, Nina; O'Connor, Shawn D.; Sanchez‐Valle, Amarilis; Vollo, Arve; Wang, Raymond Y.; Wolfenson, Zoe; Perreault, John; Ory, Daniel S.; Freeze,...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 46:Issue 2(2023)
Page Start:
326
Record Type:
Journal Article
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4. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. (3rd April 2017)

Authors:
Zou, Fanggeng; McWalter, Kirsty; Schmidt, Lindsay; Decker, Amy; Picker, Jonathan D.; Lincoln, Sharyn; Sweetser, David A.; Briere, Lauren C.; Harini, Chellamani; Marsh, Eric; Medne, Livija; Wang, Raymond Y.; Leydiker, Karen; Mower, Andrew; Visser, Gepke; Cuppen, Inge; van Gassen, Koen L.; van der ...
Journal:
Journal of neurogenetics
Issue:
Volume 31:Number 1/2(2017)
Page Start:
30
Record Type:
Journal Article
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5. Free sialic acid storage disorder: Progress and promise. (11th June 2021)

Authors:
Huizing, Marjan; Hackbarth, Mary E.; Adams, David R.; Wasserstein, Melissa; Patterson, Marc C.; Walkley, Steven U.; Gahl, William A.; Adams, David R.; Dobrenis, Kostantin; Foglio, Jessica; Gahl, William A.; Gasnier, Bruno; Hackbarth, Mary; Huizing, Marjan; Lek, Monkol; Malicdan, May C.V.; Paavola...
Journal:
Neuroscience letters
Issue:
Volume 755(2021)
Page Start:
Record Type:
Journal Article
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6. Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population. Issue 1 (26th June 2019)

Authors:
Haller, Christine; Song, Wenjie; Cimms, Tricia; Chen, Chao‐Yin; Whitley, Chester B.; Wang, Raymond Y.; Bauer, Mislen; Harmatz, Paul
Journal:
JIMD reports
Issue:
Volume 49:Issue 1(2019)
Page Start:
53
Record Type:
Journal Article
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7. Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal‐Onset Recurrent Metabolic Decompensation. Issue 3 (29th January 2013)

Authors:
Miyake, Noriko; Yano, Shoji; Sakai, Chika; Hatakeyama, Hideyuki; Matsushima, Yuichi; Shiina, Masaaki; Watanabe, Yoriko; Bartley, James; Abdenur, Jose E.; Wang, Raymond Y.; Chang, Richard; Tsurusaki, Yoshinori; Doi, Hiroshi; Nakashima, Mitsuko; Saitsu, Hirotomo; Ogata, Kazuhiro; Goto, Yu‐ichi; Mat...
Journal:
Human mutation
Issue:
Volume 34:Issue 3(2013:Mar.)
Page Start:
446
Record Type:
Journal Article
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8. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. Issue 6 (5th August 2020)

Authors:
Ng, Bobby G.; Eklund, Erik A.; Shiryaev, Sergey A.; Dong, Yin Y.; Abbott, Mary‐Alice; Asteggiano, Carla; Bamshad, Michael J.; Barr, Eileen; Bernstein, Jonathan A.; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K.; Ciliberto, Michael A.; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Gra...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1333
Record Type:
Journal Article
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