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Huidekoper, Hidde
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1

5,10‐methenyltetrahydrofolate synthetase deficiency: An ext..:

Liepina, Lelde ; Smith, Desiree E. C. ; Huidekoper, Hidde...
JIMD Reports.  65 (2024)  2 - p. 49-55 , 2024
Link: https://doi.org/10.1002/..
 
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2

Newborn screening for primary carnitine deficiency: who wil..:

Crefcoeur, Loek ; Ferdinandusse, Sacha ; van der Crabben, Saskia N...
Journal of Medical Genetics.  60 (2023)  12 - p. 1177-1185 , 2023
Link: https://doi.org/10.1136/..
 
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3

Congenital disorders of glycosylation with defective fucosy..:

Hüllen, Andreas ; Falkenstein, Kristina ; Weigel, Corina...
Journal of Inherited Metabolic Disease.  44 (2021)  6 - p. 1441-1452 , 2021
Link: https://doi.org/10.1002/..
 
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4

Lysosomal subnetwork of MetabERN: Objectives and organizati..:

Van der Ploeg, Ans ; Parenti, Giancarlo ; Germain, Dominique...
Molecular Genetics and Metabolism.  126 (2019)  2 - p. S147 , 2019
Link: https://doi.org/10.1016/..
 
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5

Sodium taurocholate cotransporting polypeptide (SLC10A1) de..:

Vaz, Frédéric M. ; Paulusma, Coen C. ; Huidekoper, Hidde...
Hepatology.  61 (2014)  1 - p. 260-267 , 2014
Link: https://doi.org/10.1002/..
 
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6

Quality of life in children with erythropoietic protoporphy..:

Kluijver, Louisa G. ; Wensink, Debby ; Wagenmakers, Margreet A. E. M....
The Journal of Dermatology.  51 (2024)  8 - p. 1068-1078 , 2024
Link: https://doi.org/10.1111/..
 
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7

Safety analysis of home-based enzyme replacement therapy wi..:

Ditters, Imke A.M. ; van der Ploeg, Ans T. ; van der Beek, Nadine A.M.E...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107081 , 2023
Link: https://doi.org/10.1016/..
 
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8

Are Anti-rhGAA Antibodies a Determinant of Treatment Outcom..:

Ditters, Imke A. M. ; van Kooten, Harmke A. ; van der Beek, Nadine A. M. E....
Biomolecules.  13 (2023)  9 - p. 1414 , 2023
Link: https://doi.org/10.3390/..
 
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9

Newborn screening for Cerebrotendinous Xanthomatosis: A ret..:

Vaz, Frédéric M. ; Jamal, Youssra ; Barto, Rob...
Clinica Chimica Acta.  539 (2023)  - p. 170-174 , 2023
Link: https://doi.org/10.1016/..
 
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10

Home-based enzyme replacement therapy in children and adult..:

Ditters, Imke A. M. ; van der Beek, Nadine A. M. E. ; Brusse, Esther...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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11

Home-Based Infusion of Alglucosidase Alfa Can Safely be Imp..:

Ditters, Imke A. M. ; van Kooten, Harmke A. ; van der Beek, Nadine A. M. E....
BioDrugs.  37 (2023)  5 - p. 685-698 , 2023
Link: https://doi.org/10.1007/..
 
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12

A Delphi Survey Study to Formulate Statements on the Treata..:

Veldman, Abigail ; Kiewiet, M. B. Gea ; Westra, Dineke...
International Journal of Neonatal Screening.  9 (2023)  4 - p. 56 , 2023
Link: https://doi.org/10.3390/..
 
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13

Effect of alglucosidase alfa dosage on survival and walking..:

Ditters, Imke A.M. ; Huidekoper, Hidde H. ; Kruijshaar, Michelle E....
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S39 , 2022
Link: https://doi.org/10.1016/..
 
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14

Megalobastic anemia, infantile leukemia, and immunodeficien..:

Kuijpers, Taco W. ; de Vries, Andrica C. H. ; van Leeuwen, Ester M....
Blood Advances.  6 (2022)  22 - p. 5829-5834 , 2022
Link: https://doi.org/10.1182/..
 
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15

Multi‐omics in classical galactosemia: Evidence for the inv..:

Hermans, Merel E. ; van Weeghel, Michel ; Vaz, Frédéric M....
Journal of Inherited Metabolic Disease.  45 (2022)  6 - p. 1094-1105 , 2022
Link: https://doi.org/10.1002/..
 
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