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Clinical variability of isovaleric acidemia in a genetically homogeneous population

Journal of inherited metabolic disease, 2012-11, Vol.35 (6), p.1021-1029

2012

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Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters

Biochimica et biophysica acta, 2014-12, Vol.1842 (12), p.2510-2516

2014

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Amino-acid depletion induced by abnormal amino-acid conjugation and protein restriction in isovaleric acidemia

European journal of clinical nutrition, 2007-11, Vol.61 (11), p.1323-1327

2007

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Polyunsaturated fatty acid status in treated isovaleric acidemia patients

European journal of clinical nutrition, 2016-10, Vol.70 (10), p.1123-1126

2016

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Sublethal effects of copper on the freshwater crab Potamonautes warreni

Comparative biochemistry and physiology. Part A, Molecular & integrative physiology, 2002-11, Vol.133 (3), p.695-702

2002

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Variable clinical presentation in three patients with 3‐methylglutaconyl‐coenzyme A hydratase deficiency

Journal of inherited metabolic disease, 1998-08, Vol.21 (6), p.631-638

1998

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Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination

Clinical dysmorphology, 2003-04, Vol.12 (2), p.95-99

2003

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Acetyl-L-carnitine prevents total body hydroxyl free radical and uric acid production induced by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) in the rat

Life sciences (1973), 2004-07, Vol.75 (10), p.1243-1253

2004

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The detection of 3-methylglutarylcarnitine and a new dicarboxylic conjugate, 3-methylglutaconylcarnitine, in 3-methylglutaconic aciduria

Clinica chimica acta, 1994-10, Vol.230 (1), p.1-8

1994

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ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients

JIMD Reports - Case and Research Reports, 2012/5, 2013, Vol.8, p.17-23

2013

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An atypical carbohydrate-deficient glycoprotein (CDG) syndrome patient in South Africa

South African medical journal, 2001-05, Vol.91 (5), p.392-394

2001

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β -OXIDATION OF [9,10(n)- 3 H]PALMITATE BY HUMAN LEUKOCYTES: A SIMPLE IN SITU ASSAY TO ASSESS MITOCHONDRIAL TOXICITY IN THE PRESENCE OF TOXINS

Toxicology mechanisms and methods, 2000, Vol.10 (2), p.99-109

2000

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Identification of the stereoisomeric configurations of methylcitric acid produced by si-citrate synthase and methylcitrate synthase using capillary gas chromatography-mass spectrometry

Journal of inherited metabolic disease, 1994-01, Vol.17 (6), p.738-747

1994

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Urinary excretion of homocitric acid and methylhomocitric acid in propionic acidaemia: Minor metabolic products of the citrate synthase aldol condensation reaction

Clinica chimica acta, 1994-10, Vol.230 (1), p.91-99

1994

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Presence of itaconic acid in the hemolymph and tissues of the freshwater crab, Potamonautes warreni Calman

Comparative Biochemistry and Physiology Part B: Biochemistry and Molecular Biology, 1996-04, Vol.113 (4), p.823-825

1996

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Prenatal analysis in two suspected cases of glutathione synthetase deficiency

Journal of inherited metabolic disease, 1993-09, Vol.16 (5), p.837-843

1993

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Non-catalytic oxidation of water-slurried coal with oxygen: identification of fulvic acids and acute toxicity

Fuel (Guildford), 1997, Vol.76 (2), p.149-154

1997

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Metabolic defects caused by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and by HPTP (the tetrahydropyridinyl analog of haloperidol), in rats

Life sciences (1973), 2000-04, Vol.66 (20), p.1949

2000

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Trimethylaminuria, diagnosed by gas chromatography with nitrogen detection

Journal of inherited metabolic disease, 1987-12, Vol.10 (4), p.401-402

1987

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Postnatal and antenatal laboratory diagnosis of glutaric aciduria II in a South African family

South African medical journal, 1987-05, Vol.71 (9), p.589-591

Henderson, H.E., Balla, R., de Jong, G., Piek, C.J., Mienie, L.J. & Erasmus, E.

1987

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Organic aciduria in late‐onset biotin‐responsive multiple carboxylase deficiency

Journal of inherited metabolic disease, 1985-06, Vol.8 (S2), p.105-106

1985

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Identification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemia

Clinical chemistry (Baltimore, Md.), 2005-08, Vol.51 (8), p.1510-1512

2005

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METABOLIC DEFECTS CAUSED BY TREATMENT WITH THE TETRAHYDROPYRIDINE ANALOG OF HALOPERIDOL (HPTP), IN BABOONS

Life sciences (1973), 1997, Vol.61 (3), p.265-272

1997

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Germination of Pterocarpus angolensis DC. and evaluation of the possible antimicrobial action of the phloem sap

South African journal of plant and soil, 1998-10, Vol.15 (4), p.141-146

1998

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Melatonin prevents the free radical and MADD metabolic profiles induced by antituberculosis drugs in an animal model

Journal of pineal research, 2005-03, Vol.38 (2), p.100-106

2005

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Clinical variability of isovaleric acidemia in a genetically homogeneous population

Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters

Amino-acid depletion induced by abnormal amino-acid conjugation and protein restriction in isovaleric acidemia

Polyunsaturated fatty acid status in treated isovaleric acidemia patients

Sublethal effects of copper on the freshwater crab Potamonautes warreni

Variable clinical presentation in three patients with 3‐methylglutaconyl‐coenzyme A hydratase deficiency

Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination

Acetyl-L-carnitine prevents total body hydroxyl free radical and uric acid production induced by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) in the rat

The detection of 3-methylglutarylcarnitine and a new dicarboxylic conjugate, 3-methylglutaconylcarnitine, in 3-methylglutaconic aciduria

ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients

An atypical carbohydrate-deficient glycoprotein (CDG) syndrome patient in South Africa

β -OXIDATION OF [9,10(n)- 3 H]PALMITATE BY HUMAN LEUKOCYTES: A SIMPLE IN SITU ASSAY TO ASSESS MITOCHONDRIAL TOXICITY IN THE PRESENCE OF TOXINS

Identification of the stereoisomeric configurations of methylcitric acid produced by si-citrate synthase and methylcitrate synthase using capillary gas chromatography-mass spectrometry

Urinary excretion of homocitric acid and methylhomocitric acid in propionic acidaemia: Minor metabolic products of the citrate synthase aldol condensation reaction

Presence of itaconic acid in the hemolymph and tissues of the freshwater crab, Potamonautes warreni Calman

Prenatal analysis in two suspected cases of glutathione synthetase deficiency

Non-catalytic oxidation of water-slurried coal with oxygen: identification of fulvic acids and acute toxicity

Metabolic defects caused by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and by HPTP (the tetrahydropyridinyl analog of haloperidol), in rats

Trimethylaminuria, diagnosed by gas chromatography with nitrogen detection

Postnatal and antenatal laboratory diagnosis of glutaric aciduria II in a South African family

Organic aciduria in late‐onset biotin‐responsive multiple carboxylase deficiency

Identification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemia

METABOLIC DEFECTS CAUSED BY TREATMENT WITH THE TETRAHYDROPYRIDINE ANALOG OF HALOPERIDOL (HPTP), IN BABOONS

Germination of Pterocarpus angolensis DC. and evaluation of the possible antimicrobial action of the phloem sap

Melatonin prevents the free radical and MADD metabolic profiles induced by antituberculosis drugs in an animal model

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