L. J. M. Spaapen

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

Xiaohua Wu, Richard Steet, Ognian Bohorov et al. · Nature Medicine · 2004 · 298 citations

Life Sciences, Genetics, Molecular Genetics +10

Clinical and biochemical presentation of siblings with COG‐7 deficiency, a lethal multiple O‐ and N‐glycosylation disorder

L. J. M. Spaapen, Jaap Bakker, S. B. van der Meer et al. · Journal of Inherited Metabolic Disease · 2004 · 66 citations

Life Sciences, Biochemistry, Genetics +14

Expanding the clinical spectrum of 3‐phosphoglycerate dehydrogenase deficiency

L. Tabatabaie, Leo W. J. Klomp, M. Estela Rubio‐Gozalbo et al. · Journal of Inherited Metabolic Disease · 2010 · 60 citations · Full text

Medicine, Neurology, Pediatrics +17

Tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency in Dutch neonates

L. J. M. Spaapen, Jaap Bakker, C. Velter et al. · Journal of Inherited Metabolic Disease · 2001 · 45 citations

Life Sciences, Biochemistry, Pediatrics +14

A New Case of Purine Nucleoside Phosphorylase Deficiency: Enzymologic, Clinical, and Immunologic Characteristics

Gert Rijksen, Wietse Kuis, S.K. Wadman et al. · Pediatric Research · 1987 · 39 citations · Full text

Life Sciences, Biochemistry, Immunology +12