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

Hildegard Przyrembel, U. Wendel, Kathrin Becker, +4

Clinica Chimica Acta

Glomerular DiseaseMetabolic SyndromeRenal FunctionRenal DiseaseMetabolic Disorder +8

Hereditary Mitochondrial Myopathy with Lactic Acidemia, A DeToni-Fanconi-Debr?? Syndrome, and a Defective Respiratory Chain in Voluntary Striated Muscles

J. P. G. M. Van Biervliet, L. Bruinvis, D. Ketting, +7

Pediatric Research

Mitochondrial MyopathyKinesiologyDefective Respiratory ChainMitochondrial FunctionPhysiology +5

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

M. Durán, Ronald J. A. Wanders, J. P. de Jager, +5

European Journal of Pediatrics

Metabolic SyndromeMetabolic DisorderDiabetesPhysiologyPediatrics +9

Secondary carnitine deficiency.

M. Durán, N E Loof, D. Ketting, +1

PubMed

NutritionNormal Carnitine ContentEnergy MetabolismBiochemistryMedicine +12

Inherited 3-methylglutaconic aciduria in two brothers—Another defect of leucine metabolism

M. Durán, F. A. Beemer, A.S. Tibosch, +3

The Journal of Pediatrics

Leucine MetabolismGenetic DisorderGeneticsInherited Metabolic DiseaseMetabolism +1

Determination of the configurations of lactic and glyceric acids from human serum and urine by capillary gas—liquid chromatography

Johannis P. Kamerling, Gerrit J. Gerwig, Johannes F.G. Vliegenthart, +3

Journal of Chromatography B Biomedical Sciences and Applications

Lipid AnalysisCapillary ElectrophoresisBiochemistryGas ChromatographyMedicine +11

Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia

R. Berger, Orla Smit, S.A. Stoker-de Vries, +3

Clinica Chimica Acta

Hereditary TyrosinemiaMendelian DisorderGenetic DisorderPathologyMetabolism +2

Lethal hypoglycemia in a child with a deficiency of 3-hydroxy-3-methylglutarylcoenzyme A lyase

R. B. H. Schutgens, H. S. A. Heymans, Arnold Ketel, +4

The Journal of Pediatrics

BiochemistryPhysiologyInherited Metabolic DiseasePediatricsLethal Hypoglycemia +2

Cis-4-decenoic acid in plasma: a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency.

M. Durán, L. Bruinvis, D. Ketting, +2

Clinical Chemistry

Metabolic SyndromeMedium-chain Fatty AcidsAldehyde DehydrogenaseBiochemistryPhysiology +13

The variability of metabolite excretion in propionicacidaemia

M. Durán, D. Gompertz, L. Bruinvis, +2

Clinica Chimica Acta

BiologyMetabolite ExcretionPhysiologyIngestionMetabolism +1