Organic acidurias and related abnormalities (Q40422979)

20 September 2017

1 reference

title

Organic acidurias and related abnormalities (English)

1 reference

20 September 2017

Lehotay DC

1

1 reference

PubMed ID

7576158

20 September 2017

Clarke JT

series ordinal

2

1 reference

PubMed ID

7576158

20 September 2017

language of work or name

1 reference

1 January 1995

1 reference

Critical Reviews in Clinical Laboratory Sciences

20 September 2017

1 reference

20 September 2017

32

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20 September 2017

4

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20 September 2017

377-429

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Mechanism of the Inhibitory Action of Linoleic Acid on the Growth of Staphylococcus aureus

20 September 2017

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Octanoic acid produces accumulation of monoamine acidic metabolites in the brain: interaction with organic anion transport at the choroid plexus

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

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/10.3109%2F10408369509084689

Isovaleric acidemia: a new genetic defect of leucine metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Quantitative metabolic profiling of urinary organic acids by gas chromatography-mass spectrometry. Comparison of isolation methods

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Chromatographic techniques in inborn errors of metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Separation of acylcarnitines from biological samples using high-performance liquid chromatography.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Simple and unambiguous method for identifying urinary acylcarnitines using gas chromatography--mass spectrometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Analysis of acylcarnitines as their N-demethylated ester derivatives by gas chromatography-chemical ionization mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Quality assessment of urinary organic acid analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Carbohydrate fermentation by gut microflora in preterm neonates

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Misidentification of propionic acid as ethylene glycol in a patient with methylmalonic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Organic acidurias: a review. Part 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Inherited disorders of 3-methylcrotonyl CoA carboxylation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Inheritable biotin-treatable disorders and associated phenomena

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Multiple syndromes of 3-methylglutaconic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

3-Methylglutaconic aciduria in "optic atrophy plus".

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4')

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Identification of 3-methylglutarylcarnitine. A new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Inherited disorders of vitamin B12 utilization

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

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/10.3109%2F10408369509084689

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/10.3109%2F10408369509084689

L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

On the enzymic defects in hereditary tyrosinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with canavan disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Inborn errors of fatty acid oxidation in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Fatty acid oxidation disorders: A new class of metabolic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Medium chain acyl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Inborn errors of metabolism and Reye syndrome: differential diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Diagnosis of medium chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in dried blood spots

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

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/10.3109%2F10408369509084689

Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Combined enzyme defect of mitochondrial fatty acid oxidation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

HYDROXYKYNURENINURIA: A CASE OF ABNORMAL TRYPTOPHAN METABOLISM PROBABLY DUE TO A DEFICIENCY OF KYNURENINASE

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

The occurrence of 2-hydroxybutyric acid in urine from patients with lactic acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

D-lactic acidosis: a treatable encephalopathy in pediatric patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

D-lactate encephalopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Excretion of cis- and trans-4-hydroxycyclohexylacetic acid in addition to hawkinsin in a family with a postulated defect of 4-hydroxyphenylpyruvate dioxygenase

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

The effect of aspirin on valproic acid metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Chronic valproate administration reduces fasting ketonemia in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Valproic acid hepatic fatalities: a retrospective review

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Sodium valproate and hyperglycinaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Pivampicillin-promoted excretion of pivaloylcarnitine in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Carnitine deficiency induced by pivampicillin and pivmecillinam therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Substituted 2-oxiranecarboxylic acids: a new group of candidate hypoglycaemic drugs

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Organic aciduria in fasted rats caused by 2-[6-(4-chlorophenoxy)hexyl]oxirane-2-carboxylate (etomoxir).

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Metabolic consequences of methylenecyclopropylglycine poisoning in rats

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Organic aciduria in rats made resistant to hypoglycin toxicity by pretreatment with clofibrate

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Hypoglycin A: a specific inhibitor of isovaleryl CoA dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Capillary gas chromatographic/mass spectrometric analysis of abnormal metabolites in hypoglycin-treated rat urine

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Octenylsuccinic Aciduria in Children Fed Protein-Hydrolysate Formulas Containing Modified Cornstarch

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Regulation of hepatic fatty acid oxidation and ketone body production

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Identification and quantification of octanoyl glucuronide in the urine of children who ingested medium-chain triglycerides

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Light (phototherapy)--induced riboflavin deficiency in the neonate.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Carnitine excretion: a catabolic index of injury.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Short chain fatty acid absorption by the human large intestine

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Toxicologic implications of biotransformation by intestinal microflora.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Pathogenesis of Hepatic Coma

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Increased excretion of propan-1,3-diol and 3-hydroxypropionic acid apparently caused by abnormal bacterial metabolism in the gut.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

The enzymatic basis for the dehydrogenation of 3-phenylpropionic acid: in vitro reaction of 3-phenylpropionyl-CoA with various acyl-CoA dehydrogenases

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

D-Lactic acidosis in a boy with short bowel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Carnitine and the premature

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369509084689

10.3109/10408369509084689

21 January 2018

Identifiers

DOI

1 reference

20 September 2017

1 reference

PubMed ID

7576158