Frits A. Wijburg

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 127 publications

Correction: A framework for evaluating long-term impact of newborn screening.

Correction: A framework for evaluating long-term impact of newborn screening.

Journal: European journal of human genetics : EJHG

Published: November 28, 2023

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

Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.

Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.

Journal: Orphanet journal of rare diseases

Published: September 13, 2023

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.

Journal: International journal of neonatal screening

Published: September 10, 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

A framework for evaluating long-term impact of newborn screening.

A framework for evaluating long-term impact of newborn screening.

Journal: European journal of human genetics : EJHG

Published: April 02, 2023

Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.

Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.

Journal: Journal of medical genetics

Published: February 26, 2023

Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA.

Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA.

Journal: Annals of clinical and translational neurology

Published: January 14, 2023

Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial.

Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial.

Journal: Orphanet journal of rare diseases

Published: May 24, 2022

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.

Journal: Neurology

Published: February 26, 2022

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.

Journal: Journal of inherited metabolic disease

Published: January 31, 2022

Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach.

Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach.

Journal: Orphanet journal of rare diseases

Published: September 13, 2021

Showing 1-12 of 127

Last Updated: 09/26/2026