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- 2020
-
Mark
Early Onset Ataxia with Comorbid Dystonia : Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology
(
- Contribution to journal › Article
- 2010
-
Mark
Dried Blood Spot Analysis : An Easy and Reliable Tool to Monitor the Biochemical Effect of Hematopoietic Stem Cell Transplantation in Hurler Syndrome Patients
(
- Contribution to journal › Article
- 2009
-
Mark
3-phosphoglycerate dehydrogenase deficiency : A case report of a treatable cause of seizures
(
- Contribution to journal › Article
-
Mark
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics
(
- Contribution to journal › Article
- 2008
-
Mark
Navelstrengbloed van een onverwante donor als bron voor stamceltransplantaties bij aangeboren stofwisselingsziekten
(
- Contribution to journal › Scientific review
-
Mark
A new, sensitive LC-MS/MS assay for quantification of uric acid in urine
(
- Contribution to journal › Article
- 2007
-
Mark
Cranial ultrasound in metabolic disorders presenting in the neonatal period : Characteristic features and comparison with MR imaging
(
- Contribution to journal › Scientific review
-
Mark
Quantification of free and total sialic acid excretion by LC-MS/MS
2007) In Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences 848(2). p.251-257(
- Contribution to journal › Article
- 2001
-
Mark
Isolated glycerol kinase deficiency and fanconi anemia [1]
(
- Contribution to journal › Letter
- 2000
-
Mark
CDG type 1B : Kliniek, diagnostiek en behandeling
(
- Contribution to journal › Article