Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene-Reference-Cited by-同舟云学术

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene

Published:2003-07 Issue:1 Volume:26 Page:37-42
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Seidel J.¹,Streck S.²,Bellstedt K.²,Vianey-Saban C.³,Pedersen C. B.⁴,Vockley J.⁵,Korall H.⁶,Roskos M.²,Deufel T.²,Trefz K. F.⁶,Sewell A. C.⁷,Kauf K.¹,Zintl F.¹,Lehnert W.⁸,Gregersen N.⁴

Affiliation:

1. ; Department of Pediatrics; Friedrich-Schiller University; Jena Germany

2. ; Institute of Clinical Chemistry and Laboratory Diagnostics; Friedrich-Schiller University; Jena Germany

3. Service of Pediatrics; Biochemistry Hospital Debrousse; Lyon France

4. ; Research Unit for Molecular Medicine; Aarhus University Hospital; Aarhus Denmark

5. ; Department of Medical Genetics; Mayo Clinic; Rochester New York USA

6. Center of Metabolic Diagnostics; Reutlingen

7. Laboratory of Metabolism; Department of Pediatrics of the University; Frankfurt am Main

8. Laboratory of Metabolism; Department of Pediatrics of the University; Freiburg Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1024019311933/fullpdf

Reference14 articles.

1. Short-chain acyl-coenzyme A dehydrogenase deficiency: clinical and biochemical studies in two patients;Amendt;J Clin Invest,1987

2. Short-chain acyl-coenzyme A dehydrogenase deficiency in a 16-year old girl with severe muscle wasting and scoliosis;Baerlocher;J Inherit Metab Dis,1997

3. Purification of electron transfer flavoprotein from pig liver mitochondria and its application to the diagnosis of deficiencies of acyl-CoA dehydrogenases in human fibroblasts;Bertrand;Clin Chim Acta,1992

4. Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency;Bhala;J Pediatr,1995

5. Hypoglycemia and elevated urine ethylmalonic acid in child homozygous for the short-chain acyl-CoA dehydrogenase 625G>A gene variation;Birkebaek;Acta Paediatr,2002

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