Marion M. Brands
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 23 publications
Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate.
Journal: Neuropediatrics
Published: December 22, 2025
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases.
Journal: Journal of inherited metabolic disease
Published: April 25, 2025
Potential benefits of l-serine in children with GRIN2B loss-of-function variants: Randomized n-of-1 trials.
Journal: Molecular genetics and metabolism
Published: March 19, 2025
Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?
Journal: Acta ophthalmologica
Published: November 20, 2024
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.
Journal: Journal of inherited metabolic disease
Published: October 15, 2024
A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions.
Journal: Molecular genetics and metabolism
Published: September 20, 2024
Overcoming treatment implementation barriers for individuals with rare diseases using single-case experimental designs.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 12, 2024
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.
Journal: Journal of neurology
Published: July 19, 2024
Syndromic retinitis pigmentosa.
Journal: Progress in retinal and eye research
Published: July 17, 2024
Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.
Journal: Molecular genetics and metabolism
Published: May 29, 2024
Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review.
Journal: Molecular genetics and metabolism
Published: April 08, 2024
Corrigendum to "Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials" [Contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/j.conctc.2023.101233].
Journal: Contemporary clinical trials communications
Published: March 27, 2024
Last Updated: 09/26/2026