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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.


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

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

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

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

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

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

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

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

The transforming growth factor-Beta signaling pathway involvement in cardiovascular lesions in mucopolysaccharidosis-I. JIMD Rep. 2013; 7:55-8. View in: PubMed

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

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

Maternal isovaleric acidemia: observation of distinctive changes in plasma amino acids and carnitine profiles during pregnancy. Clin Chim Acta. 2010 Dec 14; 411(23-24):2101-3. View in: PubMed

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

Long-term neurodevelopmental effects of early detection and treatment in a 6-year-old patient with argininaemia diagnosed by newborn screening. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S197-200. View in: PubMed

Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis. Pediatr Hematol Oncol. 2005 Dec; 22(8):717-21. View in: PubMed

Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome. J Inherit Metab Dis. 2003; 26(5):481-8. View in: PubMed

Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome. Am J Med Genet. 2001 Aug 1; 102(2):149-52. View in: PubMed

3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase. Clin Chim Acta. 1995 Aug 31; 240(1):35-51. View in: PubMed

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