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Shoji Yano, MD, PhD
Associate Professor of Clinical Pediatrics
GLB 1-G24 1801 Marengo Street Off Campus Los Angeles
+1 323 226 3816


Medical/Graduate School: Kurume University, Japan
Residency: Kurume University, CHLA
Fellowship: UCSD, CHLA/USC
Position: Director Genetics Division
Description of Current Position:
Genetics outpatient clinic, inpatient/outpatient consultation, research activities in errors of inborn metabolism.


Mahajan N, Brynes R, Yano S. Large soft-tissue masses in an adult patient with Gaucher disease. J Inherit Metab Dis. 2016 Nov; 39(6):887-888. View in: PubMed

Yano S, Moseley K, Fu X, Azen C. Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters. PLoS One. 2016; 11(8):e0160892. View in: PubMed

Moseley KD, Ottina MJ, Azen CG, Yano S. Pilot study to evaluate the effects of tetrahydrobiopterin on adult individuals with phenylketonuria with measurable maladaptive behaviors. CNS Spectr. 2015 Apr; 20(2):157-63. View in: PubMed

Ho CH, Thomas M, McGuire E, Yano S. 2-year-old girl with pancytopenia due to vitamin B12 (cobalamin) deficiency. J Paediatr Child Health. 2014 Nov; 50(11):926-8. View in: PubMed

Yano S, Moseley K, Azen C. Melatonin and dopamine as biomarkers to optimize treatment in phenylketonuria: effects of tryptophan and tyrosine supplementation. J Pediatr. 2014 Jul; 165(1):184-189. e1. View in: PubMed

Yano S, Moseley K, Wong L, Castelnovi C, Azen C, Pavlova Z. Glycosaminoglycan metabolism defects and atherosclerosis: frequent association of endothelial dysfunction in patients with Mucopolysaccharidosis. J Inherit Metab Dis. 2014 Mar; 37(2):255-61. View in: PubMed

Yano S, Moseley K, Bottiglieri T, Arning E, Azen C. Maternal Phenylketonuria International Collaborative Study revisited: evaluation of maternal nutritional risk factors besides phenylalanine for fetal congenital heart defects. J Inherit Metab Dis. 2014 Jan; 37(1):39-42. View in: PubMed

Yano S, Moseley K, Azen C. Large neutral amino acid supplementation increases melatonin synthesis in phenylketonuria: a new biomarker. J Pediatr. 2013 May; 162(5):999-1003. View in: PubMed

Yano S, Li C, Pavlova Z. The transforming growth factor-Beta signaling pathway involvement in cardiovascular lesions in mucopolysaccharidosis-I. JIMD Rep. 2013; 7:55-8. View in: PubMed

Wong L, Yano S. Silvery-gray hair in a newborn. JAMA. 2012 Aug 8; 308(6):617-8. View in: PubMed

Yano S, Baskin B, Bagheri A, Watanabe Y, Moseley K, Nishimura A, Matsumoto N, Ray PN. Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. Clin Genet. 2011 Nov; 80(5):466-71. View in: PubMed

Yano S, Moseley K, Pavlova Z. Postmortem studies on a patient with mucopolysaccharidosis type I: histopathological findings after one year of enzyme replacement therapy. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S53-7. View in: PubMed

Wu S, Gonzalez-Gomez I, Coates T, Yano S. Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis. Pediatr Hematol Oncol. 2005 Dec; 22(8):717-21. View in: PubMed

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