J.A.M. Smeitink

D-2-Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?

Marjo S. van der Knaap, C. Jakobs, Georg F. Hoffmann et al. · Annals of Neurology · 1999 · 80 citations

Medicine, Neurology, Pediatrics +13

Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy

J.A.M. Smeitink, R. C. A. Sengers, J. M. F. Trijbels et al. · European Journal of Pediatrics · 1989 · 40 citations

Medicine, Neurology, Pediatrics +14

Carnitine–acylcarnitine carrier deficiency: Identification of the molecular defect in a patient

Marjan Huizing, Udo Wendel, W. Ruitenbeek et al. · Journal of Inherited Metabolic Disease · 1998 · 37 citations

Life Sciences, Biochemistry, Molecular Genetics +3

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: Clinical, biochemical and DNA analyses in a four-generation family

M.G.E.M. Ausems, Egbert Bakker, R. Berger et al. · American Journal of Medical Genetics · 1997 · 31 citations

Life Sciences, Genetics, Molecular Genetics +17

[Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease].

M Willemsen, Petr Jira, F.J.M. Gabreëls et al. · PubMed · 1998 · 13 citations

Life Sciences, Genetics, Pediatrics +17