Van Scherpenzeel, Monique
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2

In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals A..:

Conte, Federica ; Ashikov, Angel ; Mijdam, Rachel...
International Journal of Molecular Sciences.  24 (2023)  9 - p. 8247 , 2023
 
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Screening for abnormal glycosylation in a cohort of adult l..:

Jansen, Jos C. ; Hoek, Bart ; Metselaar, Herold J....
Journal of Inherited Metabolic Disease.  43 (2020)  6 - p. 1310-1320 , 2020
 
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Phosphoglucomutase-1 deficiency: Early presentation, metabo..:

Conte, Federica ; Morava, Eva ; Bakar, Nurulamin Abu...
Molecular Genetics and Metabolism.  131 (2020)  1-2 - p. 135-146 , 2020
 
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9

Activity of N-acylneuraminate-9-phosphatase (NANP) is not e..:

Willems, Anke P. ; Sun, Lingbo ; Schulz, Morten Alder...
Biochimica et Biophysica Acta (BBA) - General Subjects.  1863 (2019)  10 - p. 1471-1479 , 2019
 
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11

Unraveling the unknown areas of the human metabolome: the r..:

Martens, Jonathan ; Berden, Giel ; Bentlage, Herman...
Journal of Inherited Metabolic Disease.  41 (2018)  3 - p. 367-377 , 2018
 
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12

NAFLD Phenotype in Patients With V-ATPase Proton Pump Assem..:

Jansen, Jos C. ; Wolthuis, David ; Van Scherpenzeel, Monique...
Cellular and Molecular Gastroenterology and Hepatology.  5 (2018)  3 - p. 415-417.e1 , 2018
 
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