Daphne H. Schoenmakers

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 21 publications

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.

Journal: Neurology

Published: November 13, 2025

Medicine Development and Access for Rare Diseases: Can We Do Better?

Medicine Development and Access for Rare Diseases: Can We Do Better?

Journal: Journal of inherited metabolic disease

Published: August 02, 2025

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.

Journal: Neurology

Published: June 27, 2025

Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.

Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.

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

Published: March 31, 2025

Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases.

Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases.

Journal: Journal of inherited metabolic disease

Published: February 14, 2025

The impact of vanishing white matter on unaffected family members.

The impact of vanishing white matter on unaffected family members.

Journal: Orphanet journal of rare diseases

Published: February 10, 2025

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.

Journal: Journal of inherited metabolic disease

Published: January 20, 2025

Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases.

Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases.

Journal: Neurology

Published: August 22, 2024

Establishing Treatment Effectiveness in Fabry Disease: Observation-Based Recommendations for Improvement.

Establishing Treatment Effectiveness in Fabry Disease: Observation-Based Recommendations for Improvement.

Journal: International journal of molecular sciences

Published: August 02, 2024

First long-term analysis of survival and clinical outcome in patient-specific instrumentation for total knee arthroplasty: follow-up of a prospective cohort study.

First long-term analysis of survival and clinical outcome in patient-specific instrumentation for total knee arthroplasty: follow-up of a prospective cohort study.

Journal: Acta orthopaedica Belgica

Published: April 26, 2024

Quantitative MRI distinguishes different leukodystrophies and correlates with clinical measures.

Quantitative MRI distinguishes different leukodystrophies and correlates with clinical measures.

Journal: European radiology

Published: March 21, 2024

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.

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

Published: January 26, 2024

Showing 1-12 of 21

Last Updated: 09/26/2026