Methods for the investigation of hypoglycaemia with particular reference to inherited disorders of mitochondrial beta-oxidation (Q40850490)

24 September 2017

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title

Methods for the investigation of hypoglycaemia with particular reference to inherited disorders of mitochondrial beta-oxidation (English)

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24 September 2017

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Bartlett K

1

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24 September 2017

1 July 1993

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Bailliere's clinical endocrinology and metabolism

24 September 2017

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24 September 2017

7

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24 September 2017

3

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24 September 2017

643-667

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

24 September 2017

1 reference

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7 January 2021

Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance.

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7 January 2021

Radiochemical high-performance liquid chromatography methods for the study of branched-chain amino acid metabolism

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7 January 2021

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

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7 January 2021

The measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation

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7 January 2021

Frequency of the G985 MCAD mutation in the general population

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7 January 2021

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

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7 January 2021

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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7 January 2021

Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase

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7 January 2021

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

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7 January 2021

Immunoquantitative analysis of human carnitine palmitoyltransferase I and II defects

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7 January 2021

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies

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7 January 2021

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

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7 January 2021

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

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7 January 2021

3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment

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7 January 2021

Recurrent Hypoglycemia Associated with Glutaric Aciduria Type II in an Adult

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7 January 2021

The existence of an inner-membrane-bound, long acyl-chain-specific 3-hydroxyacyl-CoA dehydrogenase in mammalian mitochondria

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7 January 2021

Absence of immunoreactive enzyme protewin in short-chain acylcoenzyme a dehydrogenase deficiency

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7 January 2021

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

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7 January 2021

Differentiation of isomeric acylcarnitines using tandem mass spectrometry

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7 January 2021

Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.

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7 January 2021

3-Oxothiolase activities and [14C]-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency

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7 January 2021

Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II.

1 reference

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7 January 2021

Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency

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7 January 2021

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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7 January 2021

Combined enzyme defect of mitochondrial fatty acid oxidation

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https://api.crossref.org/works/10.1016%2FS0950-351X%2805%2980212-5

7 January 2021

A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle

1 reference

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7 January 2021

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

1 reference

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7 January 2021

The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene

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7 January 2021

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings.

1 reference

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7 January 2021

Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes

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7 January 2021

Delay in cell separation, storage and anticoagulants induced inaccuracies in measuring plasma non-esterified fatty acids

1 reference

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7 January 2021

Observations on the affinity for carnitine, and malonyl-CoA sensitivity, of carnitine palmitoyltransferase I in animal and human tissues. Demonstration of the presence of malonyl-CoA in non-hepatic tissues of the rat

1 reference

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7 January 2021

A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

1 reference

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria

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7 January 2021

Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue

1 reference

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7 January 2021

Characterization of a solubilized malonyl-CoA-sensitive carnitine palmitoyltransferase from the mitochondrial outer membrane as a protein distinct from the malonyl-CoA-insensitive carnitine palmitoyltransferase of the inner membrane

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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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7 January 2021

Immunoreactive enzyme protein in medium-chain acyl-CoA dehydrogenase deficiency

1 reference

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7 January 2021

Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests.

1 reference

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7 January 2021

Glutaric aciduria type II: Report on a previously undescribed metabolic disorder

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines

1 reference

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7 January 2021

Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood

1 reference

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7 January 2021

Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups

1 reference

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7 January 2021

Critical Variables in the Radioimmunoassay of Serum Insulin Using the Double Antibody Technic

1 reference

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7 January 2021

Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane

1 reference

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7 January 2021

Optimized methods to measure acetoacetate, 3-hydroxybutyrate, glycerol, alanine, pyruvate, lactate and glucose in human blood using a centrifugal analyser with a fluorimetric attachment

1 reference

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7 January 2021

Short-chainL-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Lipid storage myopathy associated with low acyl-CoA dehydrogenase activities

1 reference

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7 January 2021

Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts

1 reference

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7 January 2021

Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II

1 reference

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7 January 2021

Hormone-sensitive lipase--a multipurpose enzyme in lipid metabolism

1 reference

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7 January 2021

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

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7 January 2021

Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle

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7 January 2021

10.1016/S0950-351X(05)80212-5

Identifiers

DOI

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release_r5iqfb5wy5e5nm7t75cbj5teou

24 September 2017

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Fatcat

https://api.fatcat.wiki/v0/release/r5iqfb5wy5e5nm7t75cbj5teou

24 November 2022

mapped directly with Wikidata item

PubMed ID

8379909

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PubMed ID

8379909