Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency-Reference-Cited by-同舟云学术

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency

Published:1999-10 Issue:7 Volume:22 Page:802-810
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Merinero B.¹,Pascual Pascual S. I.²,Pérez-Cerdá C.¹,Gangoiti J.¹,Castro M.¹,Garcia M. J.¹,Pascual Castroviejo I.²,Vianey-Saban C.³,Andresen B.⁴,Gregersen N.⁴,Ugarte M.¹

Affiliation:

1. ; Centro de Diagnóstico de Enfermedades Moleculares, Dpto. Biología Molecular; Universidad Autónoma Madrid; Madrid Spain

2. ; Servico de Neurología; Hospital Infantil La Paz; Madrid Spain

3. ; Unité d'Etude des Maladies Métaboliques; Hôpital Debrousse; Lyon France

4. ; Research Unit for Molecular Medicine, Skejby Sygehus; Aarhus Denmark

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005553907216/fullpdf

Reference20 articles.

1. Cloning and characterization of human very long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene;Andresen;Hum Mol Genet,1996

2. Genotype/phenotype correlation in VLCAD deficiency;Andresen;Am J Hum Genet,1996

3. Cloning of human very long-chain acyl-CoA dehydrogenase and molecular characterization of its deficiency in two patients;Aoyama;Am J Hum Genet,1995

4. Very long-chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts;Bertrand;Biochim Biophys Acta,1993

5. Quantitative analysis of plasma using gas chromatography chemical ionization mass fragmentography;Costa;J Lipid Res,1997

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