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Office
1520 San Pablo St
Suite 1000
Los Angeles, CA 90033Phone+1 323-442-5100Fax+1 323-442-5625
Certifications & Licensure
- CA State Medical License 1999 - 2026
- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
- American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics
Clinical Trials
- Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive Behaviors Start of enrollment: 2008 Aug 01
Publications & Presentations
PubMed
- An acute life-threatening episode of rhabdomyolysis, renal failure, altered mental status and hyperammonemia in an adult with 3-methylcrotonyl-CoA carboxylase deficiency.Rachel McGowan, Shoji Yano
Molecular Genetics and Metabolism Reports. 2024-12-01 - Histologic and ultrastructural study of intracranial Gaucheroma causing deafness in a patient with Gaucher disease type 3: Effects of substrate reduction therapy.Shoji Yano, Rachel McGowan, Mikako Warren
Molecular Genetics and Metabolism Reports. 2024-09-01 - 1 citationsTwin Premature Infants With Riboflavin and Biotin Deficiency Presenting With Refractory Lactic Acidosis, Rash, and Multiorgan Failure During Prolonged Parenteral Nutri...Mohammad Amin Adie, Maria Martes Gomez, Jessica Yom, Manuel Durand, Fiona Wertheimer
Journal of Investigative Medicine High Impact Case Reports. 2023-04-22
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