16-3-3　ⓔ文献

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  2. Kure S, Hou DC, et al: Tetrahydrobiopterine–responsive phenylalanine hydroxylase deficiency. J Pediatr, 1999; 135: 375–378.

  3. Chung DT, Shih VE, et al: Maple syrup urine disease (branched–chain ketoaciduria). The Online Metabolic & Molecular Basis of Inherited Diseases (Valle E, Beaudet AL, et al eds). http://www.ommbid.com

  4. Mudd SH, Levy HL, et al: Disorders of transsulfuration. The Online Metabolic & Molecular Basis of Inherited Diseases (Valle E, Beaudet AL, et al eds). http://www.ommbid.com

  5. Brusllow SW, Horwich L, et al: Urea Cycle Enzymes: The Online Metabolic & Molecular Basis of Inherited Diseases (Valle E, Beaudet AL, et al eds). http://www.ommbid.com

  6. Kobayashi K, Sinasac DS, et al: The gene mutated in adult–onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet, 1999;22: 159–163.

  7. Saheki T, Kobayashi K: Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult–onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet, 2002; 47: 333–341.

  8. Saheki T, Kobayashi K, et al: Reduced carbohydrate intake in citrin–deficient subjects. J Inherit Metab Dis, 2008; 31: 386–394.

  9. Ohura T, Kobayashi K, et al: Neonatal presentation of adult–onset type Ⅱ citrullinemia. Hum Genet, 2001; 108: 87–90.

  10. Kikuchi A, Arai–Ichinoi N, et al: Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13. Mol Genet Metab, 2012; 105: 553–558.

  11. Fenton W, Gravel RA, et al: Disorders of Propionate and Methylmalonate Metabolism. The Online Metabolic & Molecular Basis of Inherited Diseases (Valle E, Beaudet AL, et al eds). http://www.ommbid.com

  12. Yorifuji T, Kawai M, et al: Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. Hum Genet, 2002; 111: 161–165.