Bibiche Den Hollander

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 15 publications

Potential benefits of l-serine in children with GRIN2B loss-of-function variants: Randomized n-of-1 trials.

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

Overcoming treatment implementation barriers for individuals with rare diseases using single-case experimental designs.

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

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!

Journal: Journal of inherited metabolic disease

Published: July 10, 2024

Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review.

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

Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen.

Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen.

Journal: Molecular genetics and metabolism

Published: January 02, 2024

Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.

Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.

Journal: Therapeutic advances in rare disease

Published: October 18, 2023

Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.

Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.

Journal: BMC psychiatry

Published: July 27, 2023

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.

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.

Journal: Contemporary clinical trials communications

Published: July 04, 2023

Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.

Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.

Journal: Journal of inherited metabolic disease

Published: May 03, 2023

Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder.

Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder.

Journal: Molecular genetics and metabolism

Published: September 10, 2022

The Association between Weather Conditions and Admissions to the Paediatric Intensive Care Unit for Respiratory Syncytial Virus Bronchiolitis.

The Association between Weather Conditions and Admissions to the Paediatric Intensive Care Unit for Respiratory Syncytial Virus Bronchiolitis.

Journal: Pathogens (Basel, Switzerland)

Published: April 07, 2021

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.

Journal: Frontiers in neurology

Published: February 16, 2021

Showing 1-12 of 15

Last Updated: 09/26/2026