| Zellweger spectrum disorders: clinical overview and management approach FCC Klouwer, K Berendse, S Ferdinandusse, RJA Wanders, M Engelen, ... Orphanet journal of rare diseases 10, 1-11, 2015 | 217 | 2015 |
| Allelic expression imbalance promoting a mutant PEX6 allele causes Zellweger spectrum disorder KD Falkenberg, NE Braverman, AB Moser, SJ Steinberg, FCC Klouwer, ... The American Journal of Human Genetics 101 (6), 965-976, 2017 | 57 | 2017 |
| Comparison of C26: 0-carnitine and C26: 0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy IC Huffnagel, MC van de Beek, AL Showers, JJ Orsini, FCC Klouwer, ... Molecular genetics and metabolism 122 (4), 209-215, 2017 | 57 | 2017 |
| Clinical and biochemical pitfalls in the diagnosis of peroxisomal disorders FCC Klouwer, IC Huffnagel, S Ferdinandusse, HR Waterham, ... Neuropediatrics, 205-220, 2016 | 52 | 2016 |
| Cholic acid therapy in Zellweger spectrum disorders K Berendse, FCC Klouwer, BGP Koot, EM Kemper, S Ferdinandusse, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2016 | 47 | 2016 |
| 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 JP Marchal, H Maurice-Stam, NA Ikelaar, FCC Klouwer, KWJ Verhorstert, ... The Journal of Clinical Endocrinology & Metabolism 99 (12), E2722-E2729, 2014 | 47 | 2014 |
| Evaluation of C26: 0-lysophosphatidylcholine and C26: 0-carnitine as diagnostic markers for Zellweger spectrum disorders FCC Klouwer, S Ferdinandusse, H van Lenthe, W Kulik, RJA Wanders, ... Journal of Inherited Metabolic Disease 40, 875-881, 2017 | 40 | 2017 |
| Clinical and laboratory diagnosis of peroxisomal disorders RJA Wanders, FCC Klouwer, S Ferdinandusse, HR Waterham, ... Peroxisomes: Methods and Protocols, 329-342, 2017 | 33 | 2017 |
| Early thyroxine treatment in Down syndrome and thyroid function later in life N Zwaveling-Soonawala, ME Witteveen, JP Marchal, FCC Klouwer, ... European Journal of Endocrinology 176 (5), 505-513, 2017 | 26 | 2017 |
| The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy FCC Klouwer, BGP Koot, K Berendse, EM Kemper, S Ferdinandusse, ... Journal of Inherited Metabolic Disease 42 (2), 303-312, 2019 | 22 | 2019 |
| Absent thalami caused by a homozygous EARS2 mutation: expanding disease spectrum of LTBL SH Kevelam, FCC Klouwer, JM Fock, GS Salomons, M Bugiani, ... Neuropediatrics 47 (01), 064-067, 2016 | 22 | 2016 |
| Peroxisomal disorders RJA Wanders, JM Tager Principles of Medical Biology 3, 155-172, 1996 | 17 | 1996 |
| Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder K Berendse, M Boek, M Gijbels, NN Van der Wel, FC Klouwer, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1865 (10 …, 2019 | 15 | 2019 |
| Development and validation of a severity scoring system for Zellweger spectrum disorders FCC Klouwer, A Meester‐Delver, FM Vaz, HR Waterham, ... Clinical genetics 93 (3), 613-621, 2018 | 12 | 2018 |
| Autophagy inhibitors do not restore peroxisomal functions in cells with the most common peroxisome biogenesis defect FCC Klouwer, KD Falkenberg, R Ofman, J Koster, D van Gent, ... Frontiers in cell and developmental biology 9, 661298, 2021 | 11 | 2021 |
| Evaluation and management of deficiency of adenosine deaminase 2: an international consensus statement PY Lee, BA Davidson, RS Abraham, B Alter, JI Arostegui, K Bell, A Belot, ... JAMA Network Open 6 (5), e2315894-e2315894, 2023 | 9 | 2023 |
| Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder K Berendse, BGP Koot, FCC Klouwer, M Engelen, F Roels, MM Lacle, ... Journal of Inherited Metabolic Disease 42 (5), 955-965, 2019 | 9 | 2019 |
| Coagulopathy in Zellweger spectrum disorders: a role for vitamin K S Zeynelabidin, FCC Klouwer, JCM Meijers, MH Suijker, M Engelen, ... Journal of Inherited Metabolic Disease 41, 249-255, 2018 | 8 | 2018 |
| oral cholic acid in Zellweger spectrum disorders: a word of caution FCC Klouwer, NE Braverman, HJ Verkade, K Berendse, HR Waterham, ... Journal of pediatric gastroenterology and nutrition 66 (2), e57, 2018 | 5 | 2018 |
| Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line FCC Klouwer, J Koster, S Ferdinandusse, HR Waterham Histochemistry and Cell Biology 147, 537-541, 2017 | 2 | 2017 |
