Author:
Bosch Annet M.,Abeling Nico G. G. M.,IJlst Lodewijk,Knoester Hennie,van der Pol W. Ludo,Stroomer Alida E. M.,Wanders Ronald J.,Visser Gepke,Wijburg Frits A.,Duran Marinus,Waterham Hans R.
Subject
Genetics (clinical),Genetics
Reference18 articles.
1. Antozzi C, Garavaglia B, Mora M et al. (1994) Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency. Neurology 44:2153–2158
2. Capo-chichi CD, Guenat JL, Feillet F, Namour F, Vidailhet M (2000) Analysis of riboflavin and riboflavin cofactor levels in plasma by HPLC. J Chrom B 739:219–224
3. Dipti S, Childs A, Livingston JH, Aggarwal AK, Miller M, Williams C, Crow YJ (2005) Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. Brain Dev 27:443–446
4. Duran M, Dorland L, Van den Berg IET et al. (1997) The ethylmalonic acid syndrome is associated with deranged sulfur aminoacid metabolism leading to urinary excretion of thiosulfate and sulfothiocysteine. 8th Int Congress IEM,Vienna, Abstract 048
5. Goodman SI (1981) Organic aciduria in the riboflavin-deficient rat. Am J Clin Nutr 34(11):2434–2437
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