Henk van Lenthe

Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene.

André B. P. Kuilenburg, Janet Haasjes, Dick J. Richel et al. · PubMed · 2000 · 360 citations

Life Sciences, Biochemistry, Pharmacology +14

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography–mass spectrometry as a diagnostic test for Barth syndrome

Riekelt H. Houtkooper, Richard J. Rodenburg, Charlotte Thiels et al. · Analytical Biochemistry · 2009 · 151 citations

Life Sciences, Biochemistry, Pathology +9

Bloodspot Assay Using HPLC–Tandem Mass Spectrometry for Detection of Barth Syndrome

Willem Kulik, Henk van Lenthe, Femke S. Stet et al. · Clinical Chemistry · 2007 · 130 citations · Full text

Pharmacy, Biochemistry, Cardiology +16

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

Frédéric M. Vaz, John McDermott, Mariëlle Alders et al. · Brain · 2019 · 114 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity

André B. P. Kuilenburg, P. Vreken, L.V.A.M. Beex et al. · European Journal of Cancer · 1997 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15