Literature DB >> 6493275

Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

D M Turnbull, K Bartlett, D L Stevens, K G Alberti, G J Gibson, M A Johnson, A J McCulloch, H S Sherratt.   

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Year:  1984        PMID： 6493275     DOI： 10.1056/NEJM198411083111906

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  36 in total

1.  Gluconeogenesis and ketogenesis in perfused livers from short-chain acyl-CoA dehydrogenase-deficient mice.

Authors:  H Yamanaka; Y Ueshima; T Nakajima; N Yoshida; F Inoue; N Kodo; A Kinugasa; T Sawada
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets.

Authors:  R W Taylor; S Jackson; M Pourfarzam; K Bartlett; D M Turnbull
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 3.  Mitochondrial myopathies.

Authors:  S DiMauro; E Bonilla; M Zeviani; S Servidei; D C DeVivo; E A Schon
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

4.  Measurement of the acyl-CoA intermediates of beta-oxidation by h.p.l.c. with on-line radiochemical and photodiode-array detection. Application to the study of [U-14C]hexadecanoate oxidation by intact rat liver mitochondria.

Authors:  N J Watmough; D M Turnbull; H S Sherratt; K Bartlett
Journal:  Biochem J       Date:  1989-08-15       Impact factor: 3.857

Review 5.  Short-chain acyl-coenzyme A dehydrogenase deficiency.

Authors:  Reena Jethva; Michael J Bennett; Jerry Vockley
Journal:  Mol Genet Metab       Date:  2008-11-05       Impact factor: 4.797

6.  Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia.

Authors:  G F Hoffmann; D H Hunneman; C Jakobs; E Wilichowski; S W Eber; F Hanefeld; D Rating; H Reichmann
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 7.  Primary lipid cardiomyopathy.

Authors:  A Zimmermann; P Wyss; F Stocker
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1990

Review 8.  Carnitine and acylcarnitines: pharmacokinetic, pharmacological and clinical aspects.

Authors:  Stephanie E Reuter; Allan M Evans
Journal:  Clin Pharmacokinet       Date:  2012-09-01       Impact factor: 6.447

9.  Riboflavin deficiency in cultured rat hepatoma cells: a model for studying the hepatic effects of riboflavin deficiency.

Authors:  N S Ross; M R Klein
Journal:  In Vitro Cell Dev Biol       Date:  1990-03

10.  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
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