Hidde Huidekoper

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Erasmus University Rotterdam

Netherlands

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Validation of a newborn screening method for Cerebrotendinous Xanthomatosis

Open Date: 2020-03-01

Close Date:

Articles (10)

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2023

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2023

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2023

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2023

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2022

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2022

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2022

Collaborators (12)

Taco W. Kuijpers

Amsterdam University Medical Centers

NETHERLANDS

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Geert Geeven

Head of Bioinformatics Group

Erasmus MC

NETHERLANDS

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Janneke Langendonk

Erasmus University Rotterdam

NETHERLANDS

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Annet M. Bosch

NETHERLANDS

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Rachel Schot

Erasmus University Medical Center

NETHERLANDS

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Frédéric M. Vaz

NETHERLANDS

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Johanna M. P. van den Hout

Erasmus University Medical Center

NETHERLANDS

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Sacha Ferdinandusse

NETHERLANDS

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giancarlo parenti

Full Professor

Università degli Studi di Napoli Federico II

ITALY

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Leontine van Unen

Erasmus University Rotterdam

NETHERLANDS

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Jordy Dekker

Erasmus University Rotterdam

NETHERLANDS

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Virginie Verhoeven

Erasmus University Rotterdam

NETHERLANDS

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Hidde Huidekoper

Research Interests

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Recent Grants

Articles (10)

Web-accessible application for identifying pathogenic transcripts with RNA-seq

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

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 enzyme replacement therapy in children and adults with Pompe disease; a prospective study

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

Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene.

Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.

Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores.

Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease

Collaborators (12)

Taco W. Kuijpers

Geert Geeven

Janneke Langendonk

Annet M. Bosch

Rachel Schot

Frédéric M. Vaz

Johanna M. P. van den Hout

Sacha Ferdinandusse

giancarlo parenti

Leontine van Unen

Jordy Dekker

Virginie Verhoeven

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