Author:
Calpena Eduardo,Casado Mercedes,Martínez-Rubio Dolores,Nascimento Andrés,Colomer Jaume,Gargallo Eva,García-Cazorla Angels,Palau Francesc,Artuch Rafael,Espinós Carmen
Publisher
Springer Berlin Heidelberg
Reference22 articles.
1. Al-Jishi E, Meyer BF, Rashed MS, Al-Essa M, Al-Hamed MH, Sakati N, Sanjad S, Ozand PT, Kambouris M (1999) Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency. Clin Genet 55:444–449
2. Almaghlouth I, Mohamed J, Al-Amoudi M, Al-Ahaidib L, Al-Odaib A, Alkuraya F (2011) 5-Oxoprolinase deficiency: report of the first human OPLAH mutation. Clin Genet. doi:
10.1111/j.1399-0004.2011.01728.x
3. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215:403–410
4. Benson MD (2001) The metabolic and molecular bases of inherited disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) Amyloidosis. McGraw-Hill, New York, pp 5345–5378
5. Bernier FP, Snyder FF, McLeod DR (1996) Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay. J Inherit Metab Dis 19:367–368
Cited by
16 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