Bregje Jaeger

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 23 publications

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review.

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review.

Journal: Journal of inherited metabolic disease

Published: January 06, 2026

Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate.

Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate.

Journal: Neuropediatrics

Published: December 22, 2025

Gait abnormalities in children with FOXP1 syndrome: A case series.

Gait abnormalities in children with FOXP1 syndrome: A case series.

Journal: Journal of pediatric rehabilitation medicine

Published: June 16, 2025

Effectiveness of Pyridoxal-5'-Phosphate in PNPO Deficiency: A Systematic Review.

Effectiveness of Pyridoxal-5'-Phosphate in PNPO Deficiency: A Systematic Review.

Journal: Journal of inherited metabolic disease

Published: May 20, 2025

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Journal: Journal of inherited metabolic disease

Published: October 15, 2024

Riboflavin transporter deficiency, the search for the undiagnosed: a retrospective data mining study.

Riboflavin transporter deficiency, the search for the undiagnosed: a retrospective data mining study.

Journal: Orphanet journal of rare diseases

Published: July 30, 2024

Riboflavin transporter deficiency in young adults unmasked by dietary changes.

Riboflavin transporter deficiency in young adults unmasked by dietary changes.

Journal: JIMD reports

Published: November 08, 2023

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: March 08, 2022

Mind the B2: Life-Threatening Neonatal Complications of a Strict Vegan Diet during Pregnancy.

Mind the B2: Life-Threatening Neonatal Complications of a Strict Vegan Diet during Pregnancy.

Journal: Neonatology

Published: February 26, 2022

Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire.

Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire.

Journal: Life (Basel, Switzerland)

Published: June 03, 2021

Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.

Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.

Journal: Clinical genetics

Published: May 10, 2021

Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene.

Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene.

Journal: Clinical neurology and neurosurgery

Published: January 06, 2021

Showing 1-12 of 23

Last Updated: 09/26/2026