The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study

Author:

Derks Terry G J,Duran Marinus,Waterham Hans R,Reijngoud Dirk-Jan,ten Kate Leo P,Smit G Peter A

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Roe CR, Ding J : Mitochondrial fatty acid oxidation disorders; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic & Molecular Bases of Inherited Disease. McGraw-Hill Medical Publishing Division: New York. Vol 8. 2001, pp 2297–2326.

2. Touma EH, Charpentier C : Medium chain acyl-CoA dehydrogenase deficiency. Arch Dis Child 1992; 67: 142–145.

3. Iafolla AK, Thompson Jr RJ, Roe CR : Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr 1994; 124: 409–415.

4. Gregersen N, Blakemore AI, Winter V et al: Specific diagnosis of medium-chain Acyl-CoA dehydrogenase MCAD deficiency in dried blood spots by a polymerase chain reaction PCR assay detecting a point-mutation G985 in the MCAD gene. Clin Chim Acta 1991; 203: 23–34.

5. Yokota I, Coates PM, Hale DE, Rinaldo P, Tanaka K : Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. Am J Hum Genet 1991; 49: 1280–1291.

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