Author

Femke C. C. Klouwer

Observed names: F Klouwer, F.C.C. Klouwer, Femke C C Klouwer, Femke C. Klouwer, Femke C.C. Klouwer, Femke Klouwer, Klouwer, Femke C C, Klouwer, Femke C. C., Klouwer, Femke C. C.; Huffnagel, Irene C.; Ferdinandusse, Sacha; Waterham, Hans R.; Wanders, Ronald J. A.; Engelen, Marc; Poll-The, Bwee Tien:

Observed institutions: Amsterdam UMC Location University of Amsterdam, Emma Kinderziekenhuis, Amsterdam University Medical Centers, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, Amsterdam UMC Location Vrije Universiteit Amsterdam

ORCID: 0000-0002-8552-8837

Observed ORCID: 0000-0002-8552-8837

OpenAlex ID: A5016304303

Zellweger spectrum disorders: clinical overview and management approach

2015 · Femke C. C. Klouwer, Kevin Berendse, et al. · Orphanet Journal of Rare Diseases · 237

Evaluation and Management of Deficiency of Adenosine Deaminase 2

2023 · Pui Y. Lee, Brad A. Davidson, et al. · JAMA Network Open · 91

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

2017 · Irene C. Huffnagel, Malu-Clair van de Beek, et al. · Molecular Genetics and Metabolism · 71

Cholic acid therapy in Zellweger spectrum disorders

2016 · Kevin Berendse, Femke C. C. Klouwer, et al. · Journal of Inherited Metabolic Disease · 63

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

2017 · Kim D. Falkenberg, Nancy E. Braverman, et al. · The American Journal of Human Genetics · 54

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders

2016 · Sacha Ferdinandusse, Hans Waterham, et al. · Neuropediatrics · 48

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

2017 · Femke C. C. Klouwer, Sacha Ferdinandusse, et al. · Journal of Inherited Metabolic Disease · 47

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

2014 · Jan Pieter Marchal, Heleen Maurice-Stam, et al. · The Journal of Clinical Endocrinology & Metabolism · 42

The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy

2018 · Femke C. C. Klouwer, Bart G. P. Koot, et al. · Journal of Inherited Metabolic Disease · 33

Clinical and Laboratory Diagnosis of Peroxisomal Disorders

2017 · Ronald J. A. Wanders, Femke C. C. Klouwer, et al. · Methods in molecular biology · 30

Early thyroxine treatment in Down syndrome and thyroid function later in life

2017 · Nitash Zwaveling-Soonawala, M Emma Witteveen, et al. · European Journal of Endocrinology · 23

Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort

2023 · Marie Valérie E. Andriessen, G. Elizabeth Legger, et al. · Journal of Clinical Immunology · 22

Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect

2021 · Femke C. C. Klouwer, Kim D. Falkenberg, et al. · Frontiers in Cell and Developmental Biology · 17

Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder

2019 · Kevin Berendse, Bart G. P. Koot, et al. · Journal of Inherited Metabolic Disease · 17

Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder

2019 · Kevin Berendse, Maxim Boek, et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 16

Development and validation of a severity scoring system for Zellweger spectrum disorders

2017 · F.C.C. Klouwer, A. Meester‐Delver, et al. · Clinical Genetics · 16

Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL

2015 · Johanna Fock, Gajja Salomons, et al. · Neuropediatrics · 16

Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study

2023 · Merelijne A. Verschoof, Laura C. C. van Meenen, et al. · European Journal of Neurology · 12

Coagulopathy in Zellweger spectrum disorders: a role for vitamin K

2017 · Sara Zeynelabidin, Femke C. C. Klouwer, et al. · Journal of Inherited Metabolic Disease · 11

Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency

2024 · Femke C.C. Klouwer, Stefan D. Roosendaal, et al. · Orphanet Journal of Rare Diseases · 7

Oral Cholic Acid in Zellweger Spectrum Disorders

2017 · Femke C.C. Klouwer, Nancy E. Braverman, et al. · Journal of Pediatric Gastroenterology and Nutrition · 6

Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder

2024 · Jessica S. Karuntu, Femke C. C. Klouwer, et al. · Ophthalmic Genetics · 5

Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients

2022 · Lisette H. Koens, Inge Tuitert, et al. · Journal of Inherited Metabolic Disease · 5

The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review

2024 · Yasmin Polak, Laura van Dussen, et al. · Orphanet Journal of Rare Diseases · 4

Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line

2016 · Femke C. C. Klouwer, Janet Koster, et al. · Histochemistry and Cell Biology · 4

Works count: 38

Citation count: 903

H-index: 16

I10-index: 19