Author:
Kleta Robert,Romeo Elisa,Ristic Zorica,Ohura Toshihiro,Stuart Caroline,Arcos-Burgos Mauricio,Dave Mital H,Wagner Carsten A,Camargo Simone R M,Inoue Sumiko,Matsuura Norio,Helip-Wooley Amanda,Bockenhauer Detlef,Warth Richard,Bernardini Isa,Visser Gepke,Eggermann Thomas,Lee Philip,Chairoungdua Arthit,Jutabha Promsuk,Babu Ellappan,Nilwarangkoon Sirinun,Anzai Naohiko,Kanai Yoshikatsu,Verrey Francois,Gahl William A,Koizumi Akio
Publisher
Springer Science and Business Media LLC
Reference17 articles.
1. Baron, D.N., Dent, C.E., Harris, H., Hart, E.W. & Jepson, J.B. Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features. Lancet 271, 421–428 (1956).
2. Levy, H.L. Hartnup disorder. in The Metabolic and Molecular Bases of Inherited Disease 8th edn., vol. III (eds. Scriver, C.R., Beaudet, A.L., Valle, D.L. & Sly, W.S.) 4957–4969 (McGraw-Hill, New York, 2001).
3. Nozaki, J. et al. Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder. Biochem. Biophys. Res. Commun. 284, 255–260 (2001).
4. Broer, A. et al. Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder. J. Biol. Chem. 279, 24467–24476 (2004).
5. Bernardini, I., Introne, W., Kleta, R., Fitzpatrick, D.L. & Gahl, W.A. Detection of Hartnup's disorder in an alkaptonuria sibship. Am. J. Hum. Genet. 69, Suppl. 1, 1784 (2001).
Cited by
267 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献