Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Michèl A.A.P. Willemsen, Marcel M. Verbeek, Erik‐Jan Kamsteeg, +28

Brain

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q

Johan Fischer, W. Ruitenbeek, F.J.M. Gabreëls, +7

European Journal of Pediatrics

Mitochondrial MyopathyMitochondrial FunctionBiochemistryPhysiologyDegenerative Disease +6

Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency

J. A. J. M. Bakkeren, Ronney A. De Abreu, R. C. A. Sengers, +3

Clinica Chimica Acta

UrologyParathyroid HormoneDihydrothymine Dehydrogenase DeficiencyPediatricsParathyroid Gland +2

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

Leo A. J. Kluijtmans, G. H. J. Boers, E M Stevens, +5

Journal of Clinical Investigation

Molecular PharmacologyBiosynthesisProtein ExpressionBiochemistryMedicine +10

Axilla skin biopsy: A reliable test for the diagnosis of Lafora's disease

H. L. S. M. Busard, A.A.W.M. Gabreëls‐Festen, W.O. Renier, +2

Annals of Neurology

Pyruvate dehydrogenase deficiency restricted to brain

M.J.J. Prick, F. Gabreëls, W.O. Renier, +4

Neurology

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

J. L. M. Keulemans, Arnold Reuser, Marian A. Kroos, +12

Journal of Medical Genetics

New MutationsAlpha-naga ProteinNeurological DisorderGeneticsGenetic Epidemiology +16

Dihydropyrimidine dehydrogenase deficiency

J.P. Braakhekke, W.O. Renier, F.J.M. Gabreëls, +3

Journal of the Neurological Sciences

BiochemistryIodine Deficiency DisordersGeneticsThyroid HormoneDihydropyrimidine Dehydrogenase Deficiency +3

Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver

P.M.M. van Erven, F.J.M. Gabreëls, W. Ruitenbeek, +6

Acta Neurologica Scandinavica

Electrolyte DisorderEnergy MetabolismBiochemistryMitochondrial FunctionMedicine +13

Seven cases of huntington's disease in childhood and levodopa induced improvement in the hypokinetic — Rigid form

Peter Joseph Jongen, W.O. Renier, F.J.M. Gabreëls

Clinical Neurology and Neurosurgery

Neurodegenerative DiseasesNeurological DisorderMedicineHypokinetic Movement DisordersDegenerative Disease +8