Jan A. M. Smeitink

Combined Enzymatic Complex I and III Deficiency Associated with Mutations in the Nuclear Encoded NDUFS4 Gene

Sandy Budde, Lambert P.W.J. van den Heuvel, A.J.M. Janssen et al. · Biochemical and Biophysical Research Communications · 2000 · 185 citations

Enzymatic Complex, Genetic Disorder, Natural Sciences +8

Reconstructing the evolution of the mitochondrial ribosomal proteome

P. Smits, Jan A. M. Smeitink, Lambert P. van den Heuvel et al. · Nucleic Acids Research · 2007 · 183 citations · Full text

Genetics, Molecular Biology, Genomics +16

N-Acetylated Metabolites in Urine: Proton Nuclear Magnetic Resonance Spectroscopic Study on Patients with Inborn Errors of Metabolism

Udo F. H. Engelke, M.L.F. Liebrand-van Sambeek, J.G.N. de Jong et al. · Clinical Chemistry · 2004 · 65 citations

X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.

Ingrid Berg, E A van Beurden, Helga E.M. Malingré et al. · PubMed · 1995 · 38 citations

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.

Petr Jira, Ronald J. A. Wanders, Jan A. M. Smeitink et al. · PubMed · 2001 · 30 citations

Mendelian Disorder, Genetic Disorder, Genetics +12