D. J. Lefeber

Thrombotic complications in patients with PMM2-CDG

MW Linssen, Miski Mohamed, Ron A. Wevers et al. · Molecular Genetics and Metabolism · 2013 · 53 citations

Medicine, Hematology, Hematopathology +9

Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls

Michael S. Adamowicz, Rafał Płoski, Dariusz Rokicki et al. · Journal of Inherited Metabolic Disease · 2007 · 46 citations

Life Sciences, Biochemistry, Endocrinology +14

Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia

W.M.A. Verhoeven, Robert Csepan, Carlo Marcelis et al. · Acta Psychiatrica Scandinavica · 2009 · 42 citations

Medicine, Neurology, Psychiatry +17

Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps

Éva Morava, H N Wosik, Judit Kárteszi et al. · Journal of Inherited Metabolic Disease · 2008 · 37 citations · Full text

Medicine, Molecular Genetics, Pediatrics +11

Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.

Nicol C. Voermans, Maïlys Guillard, R Doedée et al. · PubMed · 2010 · 23 citations

Life Sciences, Genetics, Pathology +15