Raymond Wang
机构: CHOC Children's Specialists / University of California-Irvine School of Medicine
主页: choc.org
每年引用次数
引用次数
引用: 3,804
H-指数: 32
I10-指数 : 66
出版物: 198
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.
Suhrad G. Banugaria , Sean N. Prater , Trusha T. Patel , Stephanie M. DeArmey
PLOS ONE 8 ( 6)
69
2013
EHLERS-DANLOS TYPE VIII, PERIODONTITIS-TYPE: FURTHER DELINEATION OF THE SYNDROME IN A 4-GENERATION PEDIGREE
E Reinstein , RY Wang , DL Rimoin , WR Wilcox
JOURNAL OF INVESTIGATIVE MEDICINE 59 ( 1) 109 -110
2011
Novel missense mutation M185V in exon 7 of the TAZ (G4. 5) gene in a patient with atypical Barth syndrome
J Steller , Y Fan , M Fox , R Chang
MOLECULAR GENETICS AND METABOLISM 102 ( 3) 314 -314
2011
Dealing with distributional effects of flood risk management in China: compensation mechanisms in flood retention areas
L Dai , Willemijn van Doorn-Hoekveld , RY Wang , Helena FMW van Rijswick
Routledge 119 -133
10
2020
SEVERE, FATAL MULTISYSTEM MANIFESTATIONS IN A PATIENT WITH DOLICHOL KINASE-CONGENITAL DISORDER OF GLYCOSYLATION
MT Lieu , BG Ng , JS Rush , T Wood
JOURNAL OF INVESTIGATIVE MEDICINE 62 ( 1) 158 -158
2014
LYS-SAF302 gene therapy study in mucopolysaccharidosis type IIIA (mps IIIA) children
S Olivier , M Hocquemiller , A Chakrapani , R Crystal
HUMAN GENE THERAPY 30 ( 11) A89 -A90
2019
MEASUREMENT OF CAROTID INTIMA-MEDIA THICKNESS IN PATIENTS WITH MUCOPOLYSACCHARIDOSES
RY Wang , KK Covault , RD Dauben , AC Chang
JOURNAL OF INHERITED METABOLIC DISEASE 33 S132 -S132
2010
ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals
RY Wang , OA Bodamer , MS Watson , WR Wilcox
Genet Med 13 ( 5) 457 -484
34
2011
TREATMENT REDUCES SEVERITY OF BRAIN IMAGING ABNORMALITIES IN PATIENTS WITH MPS I AND II
RY Wang , EJ Cambray-Forker , Kirk Ohanian , David S Karlin
MOLECULAR GENETICS AND METABOLISM 98 ( 1-2) 58 -58
2009
Intra‐Articular AAV9 α‐l‐Iduronidase Gene Replacement in the Canine Model of Mucopolysaccharidosis Type I
Raymond Yu-Jeang Wang , Shih-Hsin Kan , Haoyue Zhang , Jodi D Smith
Advances in Cell and Gene Therapy 2023 ( 1) 7419017 -7419017
2023
Clinical Characteristics and Genotypes in the ADVANCE Baseline Dataset, a Comprehensive Cohort of Children and Youth with Pompe Disease
Priya S Kishnani , John W Day , Michael J Gambello , James B Gibson
Age 1 ( 2.68) 0 -11.4
2016
Echocardiographic assessment of Morquio syndrome type A mice
Michael Flanagana , Qi Gana , Raymond Wangb , Medha Srigiric
Abstracts/Molecular Genetics and Metabolism 120 S17 -S145
2016
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.
David B Beck , Mohammed A Basar , Anthony J Asmar , Joyce J Thompson
Science Advances 7 ( 4)
13
2021
Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.
Pedro A Sanchez-Lara , Fatih Ezgü , Cynthia J Curry , Raymond Wang
American Journal of Medical Genetics Part A
2021
Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach.
Raymond Wang , Maria Luísa Martínez-Frías , John M. Graham
The Journal of Pediatrics 141 ( 5) 611 -617
100
2002
AORTIC ROOT DILATAION IN MUCOPOLYSACCHARIDOSIS
Meena Bolourchi , Yanjun Chen , Pierangelo Renella , Danh Nguyen
Journal of the American College of Cardiology 67 ( 13) 1724
2016
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Katherine L Helbig , Robert J Lauerer , Jacqueline C Bahr , Ivana A Souza
American Journal of Human Genetics 103 ( 5) 666 -678
43
2018
D‐glyceric aciduria is caused by genetic deficiency of D‐glycerate kinase (GLYCTK)
Jörn Oliver Sass , Kathleen Fischer , Raymond Wang , Ernst Christensen
Human Mutation 31 ( 12) 1280 -1285
15
2010
A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene
Khue Vu Nguyen , Karen Leydiker , Raymond Wang , Jose Abdenur
Nucleosides, Nucleotides & Nucleic Acids 36 ( 5) 317 -327
6
2017
Isolated Sulfite Oxidase Deficiency: Response to Dietary Treatment in a Patient with Severe Neonatal Presentation
Monica Boyer , Mary Sowa , Raymond Wang , Jose Abdenur
Journal of Inborn Errors of Metabolism and Screening 7
2019