Annemiek J. Van Wegberg

Groningen, GR 9713GZ, Netherlands

Last Updated: 09/26/2026

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Found 36 publications

Dietetic guidance for nutritional management of people with phenylketonuria receiving sepiapterin.

Dietetic guidance for nutritional management of people with phenylketonuria receiving sepiapterin.

Journal: Molecular genetics and metabolism

Published: September 26, 2025

Meta-analysis of cognitive outcomes in children and adults with early treated phenylketonuria - Results across functions.

Meta-analysis of cognitive outcomes in children and adults with early treated phenylketonuria - Results across functions.

Journal: Molecular genetics and metabolism

Published: May 03, 2025

European guidelines on diagnosis and treatment of phenylketonuria: First revision.

European guidelines on diagnosis and treatment of phenylketonuria: First revision.

Journal: Molecular genetics and metabolism

Published: January 05, 2025

The influence of professionals' personal views and values in the development of guidelines for rare diseases: an example from phenylketonuria.

The influence of professionals' personal views and values in the development of guidelines for rare diseases: an example from phenylketonuria.

Journal: Orphanet journal of rare diseases

Published: December 23, 2024

Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes.

Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes.

Journal: Journal of inherited metabolic disease

Published: November 08, 2024

Ketogenic diet in adult patients with mitochondrial myopathy.

Ketogenic diet in adult patients with mitochondrial myopathy.

Journal: Molecular genetics and metabolism

Published: August 09, 2024

The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks.

The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks.

Journal: Orphanet journal of rare diseases

Published: January 16, 2024

The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria.

The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria.

Journal: Journal of inherited metabolic disease

Published: November 17, 2023

Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines.

Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines.

Journal: JIMD reports

Published: October 26, 2023

Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?

Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?

Journal: Nutrients

Published: August 10, 2022

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.

Journal: Molecular genetics and metabolism reports

Published: April 16, 2022

Caring for Ukrainian refugee children with acute and chronic diseases.

Caring for Ukrainian refugee children with acute and chronic diseases.

Journal: Lancet (London, England)

Published: March 12, 2022

Showing 1-12 of 36

Last Updated: 09/26/2026