An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene

Internal Medicine

Volumn 51, Issue 16, 2012, Pages 2131-2134

  Takahashi, Yoshimi ^a   Koyama, Shingo ^a   Tanaka, Hidetomo ^a   Arawaka, Shigeki ^a   Wada, Manabu ^a   Kawanami, Toru ^a   Haga, Hiroaki ^a   Watanabe, Hisayoshi ^a   Toyota, Kentaro ^a   Numakura, Chikahiko ^a   Hayasaka, Kiyoshi ^a   Kato, Takeo ^a  

^a YAMAGATA UNIVERSITY   (Japan)

Author keywords

Adult onset type II citrullinemia; Citrin; Hemosiderin; Hyperferritinemia; Novel mutation; SLC25A 13

Indexed keywords

APROTININ; CITRULLINE; FERRITIN;

ADULT; AMINO ACID ANALYSIS; ARTICLE; CASE REPORT; CITRULLINEMIA TYPE II; CONSCIOUSNESS DISORDER; DISORIENTATION; ECHOGRAPHY; FLAPPING TREMOR; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; JAPANESE; LIPID DIET; LIVER BIOPSY; LIVER DYSFUNCTION; LOW CARBOHYDRATE DIET; MALE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; SLC25A13 GENE;

AGE OF ONSET; CITRULLINEMIA; COMORBIDITY; FERRITINS; HEPATOCYTES; HUMANS; IRON METABOLISM DISORDERS; JAPAN; LIVER; MALE; MIDDLE AGED; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS;

EID: 84865142803     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.51.7644     Document Type: Article

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