Author:
Sass Jörn Oliver,Gunduz Aysegul,Araujo Rodrigues Funayama Carolina,Korkmaz Baris,Dantas Pinto Kylvia Giselle,Tuysuz Beyhan,Yanasse Dos Santos Letícia,Taskiran Emine,de Fátima Turcato Marlene,Lam Ching-Wan,Reiss Jochen,Walter Melanie,Yalcinkaya Cengiz,Camelo Junior José Simon
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
Reference25 articles.
1. Johnson JL, Duran M. Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. Childs B, Kinzler KW, Vogelstein B, Assoc. editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p. 3163–77.
2. Molybdenum cofactor biosynthesis and deficiency;Schwarz;Cell Mol Life Sci,2005
3. Molybdenum cofactor biosynthesis in humans. Identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor;Johnson;J Clin Invest,1989
4. Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients;Johnson;Hum Mutat,2002
5. Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase;Leimkühler;Hum Genet,2005
Cited by
65 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