(Q37463522)

20 August 2017

1 reference

title

Organic acidurias: a review. Part 2. (English)

1 reference

20 August 2017

P T Ozand

1

1 reference

PubMed ID

1940129

20 August 2017

G G Gascon

series ordinal

2

1 reference

20 August 2017

1 October 1991

1 reference

Journal of Child Neurology

20 August 2017

1 reference

20 August 2017

6

1 reference

20 August 2017

4

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20 August 2017

288-303

1 reference

Organic acids in urine of patients with congenital lactic acidoses: an aid to differential diagnosis

20 August 2017

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

The differential diagnosis of dicarboxylic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Accumulation of 3-hydroxyisobutyric acid, 2-methyl-3-hydroxybutyric acid and 3-hydroxyisovaleric acid in ketoacidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Urinary D-4-hydroxyphenyllactate, D-phenyllactate and D-2-hydroxyisocaproate, abnormalities of bacterial origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Excretion of dicarboxylic and omega-1 hydroxy fatty acids by low birth weight infants fed with medium-chain triglycerides

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Identification by mass spectrometry of pyroglutamic acid as a peak in the gas chromatography of human urine

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Biogenesis of mitochondria and genetics of mitochondrial defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

The mitochondrial genome--breaking the magic circle

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Endogenous catabolism is the major source of toxic metabolites in isovaleric acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Current research in the organic acidurias

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Carnitine deficiency, organic acidemias, and Reye's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

L-carnitine therapy in isovaleric acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

L-carnitine treatment in glutaric aciduria type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

The specificity of glycine-N-acylase and acylglycine excretion in the organicacidaemias

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Therapeutic Effects of Glycine in Isovaleric Acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Changing plasma and urinary organic acid levels in a patient with isovaleric acidemia during an attack

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Therapy of mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

The effect of thiamine treatment on the activity of pyruvate dehydrogenase: relation of the treatment of Leigh's encephalomyelopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

The metabolic effects of dichloroacetate

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Methylene-blue for riboflavin-unresponsive glutaricaciduria type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Haemodialysis for metabolic decompensation in propionic acidaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Oxidation of [U-14C]succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4-hydroxybutyric aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

The gamma-glutamyl cycle and amino acid transport. Studies of free amino acids, gamma-glutamyl-cysteine and glutathione in erythrocytes from patients with 5-oxoprolinuria (glutathione synthetase deficiency).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

D-glyceric-acidaemia and non-ketotic hyperglycinaemia. Clinical and laboratory findings in a new syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

The identification and the excretion pattern of isovaleryl glucuronide in the urine of patients with isovaleric acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Tiglicaciduria in propionicacidaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

3-Hydroxypropionate: Significance of β-Oxidation of Propionate in Patients with Propionic Acidemia and Methylmalonic Acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Octanoylglucuronide excretion in patients with a defective oxidation of medium-chain fatty acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Dicarboxylic aciduria: The response to fasting

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Localisation of enzymic defect in propionicacidaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Biochemical characterization of mutant propionyl CoA carboxylases from two minor genetic complementation groups

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Studies of Methylmalonyl Coenzyme A Carbonylmutase Activity in Methylmalonic Acidemia. I. Correlation of Clinical, Hepatic, and Fibroblast Data

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Cobalamin Binding and Cobalamin-Dependent Enzyme Activity in Normal and Mutant Human Fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Methylmalonyl coenzyme A racemase defect: another cause of methylmalonic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Vitamin B12 responsive homocystinuria and megaloblastic anemia: heterogeneity in methylcobalamin deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Enzyme studies in biotin-responsive disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Complementation analysis of fatty acid oxidation disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Specific glutaryl-CoA dehydrogenating activity is deficient in cultured fibroblasts from glutaric aciduria patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Studies on glutaryl-CoA dehydrogenase in leucocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Pyruvate Carboxylase and Phosphoenolpyruvate Carboxykinase Activity in Leukocytes and Fibroblasts from a Patient with Pyruvate Carboxylase Deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Carrier Detection of Pyruvate Carboxylase Deficiency in Fibroblasts and Lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Mitochondrial encephalomyopathy and partial cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Glutathione Synthetase Deficiency as a Cause of Hereditary Hemolytic Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Thiamine-responsive inborn errors of metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Treatment of chronic congenital lactic acidosis by oral administration of dichloroacetate

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Riboflavin-responsive defects of beta-oxidation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600402

10.1177/088307389100600402

21 January 2018

Identifiers

DOI

1 reference

20 August 2017

1 reference

PubMed ID

1940129