Keck School Faculty

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

New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome Clin Genet. 2018 Nov; 94(5):487-488. . View in PubMed

New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome Clin Genet. 2018 Sep 12. . View in PubMed

Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease) Ultrastruct Pathol. 2018 May-Jun; 42(3):220-227. . View in PubMed

Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease) Ultrastruct Pathol. 2018 Feb 26; 1-8. . View in PubMed

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

Large soft-tissue masses in an adult patient with Gaucher disease J Inherit Metab Dis. 2016 11; 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 supplementationJ 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 08; 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 01; 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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