Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

Frédéric M. Vaz, H. R. Scholte, J. Ruiter, +6

Human Genetics

GeneticsInherited Metabolic DiseaseNovel MutationsPathologySystemic Carnitine Deficiency +2

Neonatal screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency

Terry G. J. Derks, Theo Boer, Arend van Assen, +10

Journal of Inherited Metabolic Disease

Differential inhibitory effect of long-chain acyl-CoA esters on succinate and glutamate transport into rat liver mitochondria and its possible implications for long-chain fatty acid oxidation defects

Fátima V. Ventura, J. Ruiter, Lodewijk IJlst, +2

Molecular Genetics and Metabolism

Long-chain Acyl-coa EstersDifferential Inhibitory EffectOxysterolMitochondrial FunctionBiochemistry +8

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

Frédéric M. Vaz, H.R. Scholte, J. Ruiter, +6

Human Genetics

GeneticsInherited Metabolic DiseaseNovel MutationsPathologySystemic Carnitine Deficiency +2

Evidence for Impaired Gluconeogenesis in Very Long-chain Acyl-CoA Dehydrogenase-deficient Mice

Ute Spiekerkoetter, J. Ruiter, Chonan Tokunaga, +5

Hormone and Metabolic Research

Metabolic DisorderGeneticsVlcad DeficiencyKnockout Mouse ModelOxidative Stress +17

Identification of two novel mutations in<i>OCTN2</i>from two Saudi patients with systemic carnitine deficiency

Zuhair Rahbeeni, Frédéric M. Vaz, K. A. Al‐Hussein, +4

Journal of Inherited Metabolic Disease

Studies on the extra-mitochondrial CoA-ester formation of valproic and Δ4-valproic acids

CC Aires, J. Ruiter, Paula B. Luis, +6

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Extra-mitochondrial Coa-ester FormationMitochondrial BiogenesisMitochondrial FunctionBiochemistryNatural Sciences +3

Human liver l-alanine — glyoxylate aminotransferase: Characteristics and activity in controls and hyperoxaluria type I patients using a simple spectrophotometric method

R. J. A. Wanders, J. Ruiter, Carlo W.T. van Roermund, +4

Clinica Chimica Acta

HepatologyBiochemistryMedicineLiver PhysiologyHepatotoxicity +8

A single [3H]thymidine-based limiting dilution analysis to determine HTLp and CTLp frequencies for bone marrow donor selection

A. van der Meer, Irma Joosten, J. Ruiter, +1

Bone Marrow Transplantation

Cell TherapyTransplantationBone Marrow FailureLaboratory HematologyDilution Analysis +9

Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose

Ronald J. A. Wanders, Frits A. Wijburg, J. Ruiter, +5

Journal of Inherited Metabolic Disease