(Q36190148)

12 August 2017

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title

Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects (English)

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medium chain acyl-CoA dehydrogenase deficiency

12 August 2017

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author name string

Y Matsubara

series ordinal

1

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PubMed ID

1601002

12 August 2017

K Narisawa

series ordinal

2

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PubMed ID

1601002

12 August 2017

K Tada

series ordinal

3

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12 August 2017

1 March 1992

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European Journal of Pediatrics

12 August 2017

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12 August 2017

151

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12 August 2017

154-159

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12 August 2017

3

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https://scigraph.springernature.com/pub.10.1007/bf01954373

12 August 2017

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cites work

Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01954373

Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.

21 January 2018

1 reference

12 December 2020

A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome.

1 reference

12 December 2020

Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.

1 reference

12 December 2020

Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine

1 reference

12 December 2020

Quantitation of urinary carnitine esters in a patient with medium-chain acyl-coenzyme A dehydrogenase deficiency: effect of metabolic state and L-carnitine therapy

1 reference

12 December 2020

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1 reference

12 December 2020

Medium-chain acyl-CoA dehydrogenase deficiency: a useful diagnosis five years after death.

1 reference

12 December 2020

Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.

1 reference

12 December 2020

Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue

1 reference

12 December 2020

General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases

1 reference

12 December 2020

Biosynthesis of four rat liver mitochondrial acyl-CoA dehydrogenases: in vitro synthesis, import into mitochondria, and processing of their precursors in a cell-free system and in cultured cells

1 reference

12 December 2020

Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

The incidence and presentation of dicarboxylic aciduria

1 reference

12 December 2020

Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening

1 reference

12 December 2020

Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1

1 reference

12 December 2020

Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids

1 reference

12 December 2020

Structure of the medium-chain acyl-CoA dehydrogenase from pig liver mitochondria at 3-A resolution

1 reference

12 December 2020

Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients

1 reference

12 December 2020

In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat liver medium chain acyl coenzyme A dehydrogenase.

1 reference

12 December 2020

Disease diagnosis by recombinant DNA methods

1 reference

12 December 2020

Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

1 reference

12 December 2020

Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards

1 reference

12 December 2020

Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples

1 reference

12 December 2020

Defects of metabolism of fatty acids in the sudden infant death syndrome

1 reference

12 December 2020

Simple and rapid detection of phenylketonuria mutation tightly linked to haplotype 2 by modified polymerase chain reaction

1 reference

12 December 2020

The locus for the medium-chain acyl-CoA dehydrogenase gene on chromosome 1 is highly polymorphic

1 reference

12 December 2020

Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

The detection of abnormal metabolites in MCAD deficiency: a new method

1 reference

12 December 2020

Identification of phenylpropionylcarnitine, a new metabolite of phenylpropionic acid, in a patient with medium chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome

1 reference

12 December 2020

Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation

1 reference

12 December 2020

Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes

1 reference

12 December 2020

Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings

1 reference

12 December 2020

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

12 December 2020

Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome

1 reference

12 December 2020

Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency

1 reference

12 December 2020

Acylcoenzyme A dehydrogenase deficiency in heart tissue from infants who died unexpectedly with fatty change in the liver

1 reference

12 December 2020

The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies

1 reference

12 December 2020

Sudden infant death and inherited disorders of fat oxidation

1 reference

12 December 2020

Molecular cloning and nucleotide sequence of cDNAs encoding the precursors of rat long chain acyl-coenzyme A, short chain acyl-coenzyme A, and isovaleryl-coenzyme A dehydrogenases. Sequence homology of four enzymes of the acyl-CoA dehydrogenase fami

1 reference

12 December 2020

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts

1 reference

12 December 2020

Investigation of inborn errors of metabolism in unexpected infant deaths

1 reference

12 December 2020

Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Amplification refractory mutation system for prenatal diagnosis and carrier assessment in cystic fibrosis

1 reference

12 December 2020

Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01954373

1 reference

12 August 2017

1 reference

PubMed ID

1601002