N.G.G.M. Abeling

X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism.

Han G. Brunner, Marcel Nelen, Peter van Zandvoort et al. · PubMed · 1993 · 369 citations

Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes.

Jacques W.M. Lenders, Graeme Eisenhofer, N.G.G.M. Abeling et al. · Journal of Clinical Investigation · 1996 · 152 citations · Full text

Genetics, Neurochemical Biomarkers, Mendelian Disorder +17

Simultaneous determination of catecholamines and metanephrines in urine by HPLC with fluorometric detection

N.G.G.M. Abeling, Albert H. Gennip, Henk Overmars et al. · Clinica Chimica Acta · 1984 · 66 citations

Urology, Gas Chromatography, Medicine +14

Quantification of free and total sialic acid excretion by LC–MS/MS

Maria van der Ham, Berthil H.C.M.T. Prinsen, J. G. M. Huijmans et al. · Journal of Chromatography B · 2006 · 65 citations

Biochemistry, Separation Science, Medicine +9

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia

N.G.G.M. Abeling, M. Durán, Hester I. Bakker et al. · Molecular Genetics and Metabolism · 2006 · 60 citations

Degenerative Disease, Neurology, Neuroscience +4