(Q28259592)

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Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

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Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin (English)

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Esther Leshinsky-Silver

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object named as

Esther Leshinsky-Silver

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Tally Lerman-Sagie

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object named as

Tally Lerman-Sagie

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object named as

Gerard T Berry

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object named as

Jerry Vockley

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6

object named as

Dorit Lev

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author name string

Ingrid Tein

1

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Orly Elpeleg

2

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Bruria Ben-Zeev

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Stanley H Korman

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Alexander Lossos

5

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Anne-Marie Lamhonwah

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Dietrich Matern

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Charles R Roe

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Niels Gregersen

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language of work or name

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publication date

February 2008

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Molecular Genetics and Metabolism

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93

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2

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179-89

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

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

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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

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

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

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Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency

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

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Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, to

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Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency

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Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy

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Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

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Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency

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

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Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening

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Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder

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Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy.

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The urinary excretion of ethylmalonic acid: What level requires further attention?

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

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Short chain acyl-coenzyme A dehydrogenase (SCAD) deficiency. Immunochemical demonstration of molecular heterogeneity due to variant SCAD with differing stability

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Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

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

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The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots

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The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots

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Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency

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Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy

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Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts

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High-level expression of an altered cDNA encoding human isovaleryl-CoA dehydrogenase in Escherichia coli

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Parameters affecting the yield of DNA from human blood

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Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.

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Protein misfolding and degradation in genetic diseases.

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Minicore myopathy in children: a clinical and histopathological study of 19 cases.

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Multicore disease: report of a case with onset in middle age.

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Multicore disease in twins

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Familial multicore disease with focal loss of cross-striations and ophthalmoplegia

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Short-Chain Acyl-Coenzyme A Dehydrogenase Activity, Antigen, and Biosynthesis Are Absent in the BALB/cByJ Mouse

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Pathologic characterization of short-chain acyl-CoA dehydrogenase deficiency in BALB/cByJ mice.

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A profile of cerebral and hepatic carnitine, ammonia, and energy metabolism in a model of organic aciduria: BALB/cByJ mouse with short-chain acyl-CoA dehydrogenase deficiency.

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Effects of short-chain acyl-CoA dehydrogenase deficiency on development expression of metabolic enzyme genes in the mouse.

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Enzymes of fatty acid beta-oxidation in developing brain

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Inhibition of creatine kinase activity in vitro by ethylmalonic acid in cerebral cortex of young rats.

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Ethylmalonic acid inhibits mitochondrial creatine kinase activity from cerebral cortex of young rats in vitro.

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Creatine kinase: an enzyme with a central role in cellular energy metabolism

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Inhibition of the electron transport chain and creatine kinase activity by ethylmalonic acid in human skeletal muscle.

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Structural organization of the human short-chain acyl-CoA dehydrogenase gene

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Jewish diseases and origins

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Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

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Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

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Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase

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10.1016/J.YMGME.2007.09.021

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