Hidde H. Huidekoper

Rotterdam, ZH 3015GD, Netherlands

Last Updated: 09/26/2026

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Found 41 publications

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral.

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral.

Journal: International journal of neonatal screening

Published: November 24, 2025

Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals.

Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals.

Journal: Journal of inherited metabolic disease

Published: August 30, 2024

Quality of life in children with erythropoietic protoporphyria: a case-control study.

Quality of life in children with erythropoietic protoporphyria: a case-control study.

Journal: The Journal of dermatology

Published: April 15, 2024

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

Journal: Orphanet journal of rare diseases

Published: January 02, 2024

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

5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings.

5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings.

Journal: JIMD reports

Published: August 22, 2023

Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.

Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.

Journal: Biomolecules

Published: July 14, 2023

Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions.

Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions.

Journal: BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy

Published: May 21, 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

Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study.

Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study.

Journal: Orphanet journal of rare diseases

Published: February 13, 2023

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: December 03, 2022

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

Journal: American journal of human genetics

Published: July 08, 2022

Showing 1-12 of 41

Last Updated: 09/26/2026