Shoji Yano, MD, PhD

Associate Professor of Clinical Pediatrics and Medicine

Division Head of Genetics

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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.


  • Twin Premature Infants With Riboflavin and Biotin Deficiency Presenting With Refractory Lactic Acidosis, Rash, and Multiorgan Failure During Prolonged Parenteral Nutrition J Investig Med High Impact Case Rep. 2023 Jan-Dec; 11:23247096231168111. . View in PubMed
  • Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas J Pediatr Genet. 2022 Mar; 11(1):47-50. . View in PubMed
  • De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis Am J Hum Genet. 2021 02 04; 108(2):357-367. . View in PubMed
  • Use of electron microscopy when screening liver biopsies from neonates and infants: experience from a single tertiary children’s hospital (1991-2017) Ultrastruct Pathol. 2020 Jan 02; 44(1):32-41. . View in PubMed
  • Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis Pediatr Nephrol. 2020 06; 35(6):1129-1132. . View in PubMed
  • Reduction of large soft-tissue Gaucheromas with substrate reduction therapy J Inherit Metab Dis. 2020 03; 43(2):375-376. . View in PubMed
  • SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals Hum Mutat. 2019 07; 40(7):908-925. . 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
  • New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome Clin Genet. 2018 11; 94(5):487-488. . 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
  • Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry Mol Genet Metab. 2014 May; 112(1):9-16. . 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
  • Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature Am J Med Genet A. 2013 Jun; 161A(6):1221-37. . 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
  • Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome Nat Genet. 2012 Mar 18; 44(4):376-8. . 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
  • Creatine metabolism in combined methylmalonic aciduria and homocystinuria disease revisited Ann Neurol. 2009 Apr; 65(4):481-2; author reply 482-3. . View in PubMed
  • Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis Pediatr Hematol Oncol. 2005 Dec; 22(8):717-21. . View in PubMed
  • Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case Am J Med Genet A. 2003 Jul 30; 120A(3):400-5. . View in PubMed
  • Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment Mol Genet Metab. 2003 Jun; 79(2):110-3. . 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
  • 3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase Clin Chim Acta. 1995 Aug 31; 240(1):35-51. . View in PubMed