Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis-Reference-Cited by-同舟云学术

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Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis

Published:1997-07 Issue:3 Volume:20 Page:427-431
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Baerlocher K. E.¹,Steinmann B.²,Aguzzi A.³,Krähenbühl S.⁴,Roe C. R.⁵,Vianey-Saban C.⁶

Affiliation:

1. ; Children's Hospital; Eastern Switzerland, St. Gallen Zürich Switzerland

2. ; Division of Metabolic and Molecular Diseases; University Children's Hospital; Zürich Switzerland

3. ; Institute of Neuropathology; University of Zürich; Zürich Switzerland

4. ; Department of Clinical Pharmacology and Toxicology, Clinic of Internal Medicine; University of Zürich; Zürich Switzerland

5. ; Institute of Metabolic Disease; Baylor University, Medical Center; Dallas Texas USA

6. ; Service de Biochemie Pédiatrique; Hôpital Debrousse; Lyon France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005319120751/fullpdf

Reference13 articles.

1. Short-chain acyl-CoA dehydrogenase deficiency;Amendt;J Clin Invest,1987

2. 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

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

4. Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness;Coates;J Clin Invest,1988

5. Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase;Corydon;Pediatr Res,1996

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1. Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges;Journal of Inherited Metabolic Disease;2023-09

2. Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms;Journal of Inherited Metabolic Disease;2017-05-17

3. Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening;Developmental Disabilities Research Reviews;2013-06

4. A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis;Indian Journal of Clinical Biochemistry;2011-06-08

5. Disorders of muscle lipid metabolism: Diagnostic and therapeutic challenges;Neuromuscular Disorders;2010-11

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