Suchergebnisse - "Huidekoper, Hidde"

PubPharm (76)

1

Prioritizing disease-causing metabolic genes by integrating metabolomics with whole exome sequencing data

enthalten in: bioRxiv.org | 2024

von Bongaerts, M. | Bonte, R. | Demirdas, S. | +7

2

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

enthalten in: JIMD reports | 2024

von Liepina, L. | Smith, D. | Huidekoper, H. | +7

3

Newborn screening for primary carnitine deficiency : who will benefit? - a retrospective cohort study

enthalten in: Journal of medical genetics | 2023

von Crefcoeur, L. | Ferdinandusse, S. | van der Crabben, S. | +15

4

RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants

enthalten in: bioRxiv.org | 2023

von Dekker, J. | Schot, R. | Bongaerts, M. | +25

5

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

enthalten in: International journal of neonatal screening | 2023

von Veldman, A. | Kiewiet, M. | Westra, D. | +21

6

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

enthalten in: Biomolecules | 2023

von Ditters, I. | van Kooten, H. | van der Beek, N. | +3

7

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

enthalten in: BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy | 2023

von Ditters, I. | van Kooten, H. | van der Beek, N. | +7

8

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

enthalten in: BioDrugs | 2023

von Ditters, I. | van Kooten, H. | van der Beek, N. | +7

9

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

enthalten in: BioDrugs | 2023

von Ditters, I. | van Kooten, H. | van der Beek, N. | +7

10

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

enthalten in: BioDrugs | 2023

von Ditters, I. | van Kooten, H. | van der Beek, N. | +7

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