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同被引文献15
1Baron DN, Dent CE, Harris H, et al. Hereditary pellagra - like skin rash with temporary cerebella ataxia, constant renal aminoacidura and other bizarre biochemical features. Lancet 1965; 271 : 421 - 428.
2Nozaki J, Dakeishi M, Ohura T, et al. Homozygosity mapping to chromosomes 5p15 of a gene responsible for Hartnup disorder. Biochem Biophys Res Co.nun 2001 ;284:255 - 260.
3Heng F Seow, Stefan Broer, Angelika Broer, et al. Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. Nature Genetics 2004;36: 1003- 1007.
4Robert Kleta, Elisa Romeo, Zorica Ristic, et al. Mutations in SCL6Al9, encoding BOAT1, cause Hartnup disease. Nature Genetics 2004;36:999- 1002.
5Jeffrey A, Kraut. Hartnup disorder: Unraveling the mystery. Trends in Pharmarcological Science 2005 ; 26 : 53 - 55.
6周徐凯,韩冰.简明临床检验参考与疾病.北京:中国社会出版社.1995.58-59.
7Baron DN,Dent CE,Harris H. Hereditary pellagralike skin rash with temporary cerebellar ataxia,constant renal amino-aciduria,and other bizarre biochemical features[J].The Lancet,1956,(6940):421-428.
8Seow HF,Broer S,Broer A. Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19[J].Nature Genetics,2004,(09):1003-1007.doi:10.1038/ng1406.
9Kleta R,Romeo E,Ristic Z. Mutations in SLC6A19,encoding B0AT1,cause Hartnup disorder[J].Nature Genetics,2004,(09):999-1002.doi:10.1038/ng1405.
10Stefan Broer. The Role of the Neutral Amino acid Transporter B0AT1 (SLC6A19) in Hartnup Disorder and Protein Nutrition[J].IUBMB Life,2009,(06):591-599.
