Femke C C Klouwer

5PUBLICATIONS
10CO-AUTHORS
Metabolic medicineMedical biochemistry - amino acids and metabolitesVision scienceNeurology and neuromuscular diseasesMultimorbidity
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Publications (5)

|Jul 11, 2025
Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects.

Yasmin Polak, Elles Marleen Kemper, Marc Engelen

|Sep 24, 2024
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency.

Femke C C Klouwer, Stefan D Roosendaal, Carla E M Hollak

|Apr 25, 2024
Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder.

Jessica S Karuntu, Femke C C Klouwer, Marc Engelen

|Aug 16, 2023
Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.

Merelijne A Verschoof, Laura C C van Meenen, M Valérie E Andriessen

|Sep 01, 2017
Development and validation of a severity scoring system for Zellweger spectrum disorders.

F C C Klouwer, A Meester-Delver, F M Vaz

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