Literature DB >> 9266373

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

K E Baerlocher1, B Steinmann, A Aguzzi, S Krähenbühl, C R Roe, C Vianey-Saban.   

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Year:  1997        PMID： 9266373     DOI： 10.1023/a:1005319120751

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  10 in total

1.  Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry.

Authors:  C Vianey-Saban; N Guffon; F Delolne; P Guibaud; M Mathieu; P Divry
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

2.  Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase.

Authors:  M J Corydon; N Gregersen; W Lehnert; A Ribes; P Rinaldo; S Kmoch; E Christensen; T J Kristensen; B S Andresen; P Bross; V Winter; G Martinez; S Neve; T G Jensen; L Bolund; S Kølvraa
Journal:  Pediatr Res       Date:  1996-06       Impact factor: 3.756

3.  Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness.

Authors:  P M Coates; D E Hale; G Finocchiaro; K Tanaka; S C Winter
Journal:  J Clin Invest       Date:  1988-01       Impact factor: 14.808

4.  Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts.

Authors:  C Bertrand; C Largillière; M T Zabot; M Mathieu; C Vianey-Saban
Journal:  Biochim Biophys Acta       Date:  1993-01-22

5.  A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.

Authors:  A C Sewell; J Herwig; H Böhles; P Rinaldo; A Bhala; D E Hale
Journal:  Eur J Pediatr       Date:  1993-11       Impact factor: 3.183

Review 6.  The inborn errors of mitochondrial fatty acid oxidation.

Authors:  C Vianey-Liaud; P Divry; N Gregersen; M Mathieu
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

7.  Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.

Authors:  E Naito; Y Indo; K Tanaka
Journal:  J Clin Invest       Date:  1990-05       Impact factor: 14.808

8.  Evidence for intermediate channeling in mitochondrial beta-oxidation.

Authors:  M A Nada; W J Rhead; H Sprecher; H Schulz; C R Roe
Journal:  J Biol Chem       Date:  1995-01-13       Impact factor: 5.157

9.  Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency.

Authors:  A Bhala; S M Willi; P Rinaldo; M J Bennett; E Schmidt-Sommerfeld; D E Hale
Journal:  J Pediatr       Date:  1995-06       Impact factor: 4.406

10.  Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients.

Authors:  B A Amendt; C Greene; L Sweetman; J Cloherty; V Shih; A Moon; L Teel; W J Rhead
Journal:  J Clin Invest       Date:  1987-05       Impact factor: 14.808
  10 in total
  8 in total

1.  Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

Authors:  Susan E Waisbren; Yuval Landau; Jenna Wilson; Jerry Vockley
Journal:  Dev Disabil Res Rev       Date:  2013

Review 2.  Disorders of mitochondrial fatty acyl-CoA beta-oxidation.

Authors:  R J Wanders; P Vreken; M E den Boer; F A Wijburg; A H van Gennip; L IJlst
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

3.  A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis.

Authors:  G Shilpa Reddy; M Sujatha
Journal:  Indian J Clin Biochem       Date:  2011-06-08

Review 4.  Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.

Authors:  Zahra Nochi; Rikke Katrine Jentoft Olsen; Niels Gregersen
Journal:  J Inherit Metab Dis       Date:  2017-05-17       Impact factor: 4.982

5.  Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Authors:  S E Waisbren; H L Levy; M Noble; D Matern; N Gregersen; K Pasley; D Marsden
Journal:  Mol Genet Metab       Date:  2008-08-03       Impact factor: 4.797

Review 6.  Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.

Authors:  Bianca T van Maldegem; Ronald J A Wanders; Frits A Wijburg
Journal:  J Inherit Metab Dis       Date:  2010-04-29       Impact factor: 4.982

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

Authors:  J Seidel; S Streck; K Bellstedt; C Vianey-Saban; C B Pedersen; J Vockley; H Korall; M Roskos; T Deufel; K F Trefz; A C Sewell; E Kauf; F Zintl; W Lehnert; N Gregersen
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

8.  The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

Authors:  Christina B Pedersen; Steen Kølvraa; Agnete Kølvraa; Vibeke Stenbroen; Margrethe Kjeldsen; Regina Ensenauer; Ingrid Tein; Dietrich Matern; Piero Rinaldo; Christine Vianey-Saban; Antonia Ribes; Willy Lehnert; Ernst Christensen; Thomas J Corydon; Brage S Andresen; Søren Vang; Lars Bolund; Jerry Vockley; Peter Bross; Niels Gregersen
Journal:  Hum Genet       Date:  2008-06-04       Impact factor: 4.132
  8 in total

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