Femke C. C. Klouwer

Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy

Irene C. Huffnagel, Malu-Clair van de Beek, Amanda Showers et al. · Molecular Genetics and Metabolism · 2017 · 70 citations

Adrenal Gland, Dried Blood Spots, Medicine +7

Cholic acid therapy in Zellweger spectrum disorders

Kevin Berendse, Femke C. C. Klouwer, Bart G.P. Koot et al. · Journal of Inherited Metabolic Disease · 2016 · 60 citations · Full text

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

Kim D. Falkenberg, Nancy Braverman, Ann B. Moser et al. · The American Journal of Human Genetics · 2017 · 52 citations · Full text

Allelic Variant, Allelic Expression Imbalance, Genetic Disorder +10

Evaluation of C26:0‐lysophosphatidylcholine and C26:0‐carnitine as diagnostic markers for Zellweger spectrum disorders

Femke C. C. Klouwer, Sacha Ferdinandusse, Henk van Lenthe et al. · Journal of Inherited Metabolic Disease · 2017 · 50 citations · Full text

Effects of Early Thyroxine Treatment on Development and Growth at Age 10.7 Years: Follow-Up of a Randomized Placebo-Controlled Trial in Children With Down's Syndrome

Jan Pieter Marchal, Heleen Maurice‐Stam, Nadine A. Ikelaar et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 40 citations · Full text