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    Shoji Yano, MD, PhD

    TitleAssociate Professor of Clinical Pediatrics
    SchoolKeck School of Medicine of USC
    AddressGLB 1-G24 1801 Marengo Street
    Off Campus
    Los Angeles California 90033
    Phone+1 323 226 3816
    vCardDownload vCard

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      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.

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      Collapse Publications
      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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      1. 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. PMID: 27513937; PMCID: PMC4981358.
      2. 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. PMID: 27503099.
        View in: PubMed
      3. 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. PMID: 25323746.
        View in: PubMed
      4. 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. PMID: 24906012.
        View in: PubMed
      5. 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. PMID: 24857519.
        View in: PubMed
      6. 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. PMID: 23893050.
        View in: PubMed
      7. 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. PMID: 23784316.
        View in: PubMed
      8. 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. PMID: 23164313.
        View in: PubMed
      9. Wong L, Yano S. Silvery-gray hair in a newborn. JAMA. 2012 Aug 08; 308(6):617-8. PMID: 22871872.
        View in: PubMed
      10. 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. PMID: 23430495; PMCID: PMC3575049.
      11. 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. PMID: 20950395.
        View in: PubMed
      12. Castelnovi C, Moseley K, Yano S. 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. PMID: 20807522.
        View in: PubMed
      13. Edwards RL, Moseley K, Watanabe Y, Wong LJ, Ottina J, Yano S. 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. PMID: 19562505.
        View in: PubMed
      14. 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. PMID: 19308670.
        View in: PubMed
      15. 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. PMID: 16251179.
        View in: PubMed
      16. Yano S, Li L, Le TP, Moseley K, Guedalia A, Lee J, Gonzalez I, Boles RG. 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. PMID: 14518828.
        View in: PubMed
      17. Yano S, Watanabe Y. Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome. Am J Med Genet. 2001 Aug 01; 102(2):149-52. PMID: 11477607.
        View in: PubMed
      18. Röschinger W, Millington DS, Gage DA, Huang ZH, Iwamoto T, Yano S, Packman S, Johnston K, Berry SA, Sweetman L. 3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase. Clin Chim Acta. 1995 Aug 31; 240(1):35-51. PMID: 8582058.
        View in: PubMed
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