Irene Joan Chang MD
Clinical Biochemical Genetics, Clinical Genetics, Medical Biochemical Genetics
Physician
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1825 4th StFl 6San Francisco, CA 94143
Phone+1 415-476-2757
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Education & Training
University of WashingtonResidency, Medical Genetics and Genomics, 2014 - 2016
University of Miami Leonard M. Miller School of MedicineClass of 2014
Certifications & Licensure
WA State Medical License 2015 - 2026
CA State Medical License 2023 - 2025
HI State Medical License 2014 - 2015
American Board of Medical Genetics and Genomics Medical Biochemical Genetics- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Clinical Trials
- Acetazolamide Efficacy in Ataxia in PMM2-CDG Start of enrollment: 2021 Mar 17
Publications & Presentations
PubMed
- 6 citationsFrontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.Christina Lam, Fernando Scaglia, Gerard T Berry, Austin Larson, Kyriakie Sarafoglou
Molecular Genetics and Metabolism. 2024-08-01 - 3 citationsAssociation of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.Janel O. Johnson, Ruth Chia, Danny E. Miller, Rachel Li, Ravindran Kumaran
JAMA Neurology. 2021-10-01 - 6 citationsThe low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.Adam J. Guenzel, Patricia L. Hall, Anna I. Scott, Christina Lam, Irene J. Chang
JIMD Reports. 2021-04-05
Journal Articles
- Novel Phenotype of Achondroplasia Due to Biallelic FGFR3 Pathogenic VariantsMaryse L Bouchard, Shawn E Kamps, Michael J Goldberg, Irene J Chang, Ian A Glass, Stephen Done, American Journal of Medical Genetics Part A
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