Femke C. Klouwer
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 27 publications
Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects.
Journal: Journal of inherited metabolic disease
Published: January 10, 2025
The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review.
Journal: Orphanet journal of rare diseases
Published: May 08, 2024
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency.
Journal: Orphanet journal of rare diseases
Published: January 03, 2024
Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.
Journal: European journal of neurology
Published: May 08, 2023
Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort.
Journal: Journal of clinical immunology
Published: February 03, 2023
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients.
Journal: Journal of inherited metabolic disease
Published: February 03, 2022
Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect.
Journal: Frontiers in cell and developmental biology
Published: January 30, 2021
The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.
Journal: Journal of inherited metabolic disease
Published: February 23, 2019
Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder.
Journal: Journal of inherited metabolic disease
Published: November 30, 2018
Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: July 25, 2018
Last Updated: 09/26/2026