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Mirjam M C Wamelink Selected Research

Mirjam M C Wamelink Research Topics

Disease

2Leukoencephalopathies
08/2019 - 12/2017
2Intellectual Disability (Idiocy)
01/2017 - 01/2017
2Seizures (Absence Seizure)
01/2017 - 01/2017
1Metachromatic Leukodystrophy (Sulfatide Lipidosis)
01/2022
1Phenylketonurias (Phenylketonuria)
03/2021
1succinic semialdehyde dehydrogenase deficiency
01/2020
1Ribose 5-Phosphate Isomerase Deficiency
08/2019
1Guanidinoacetate methyltransferase deficiency
01/2017
1Language Development Disorders (Semantic-Pragmatic Disorder)
01/2017
1Movement Disorders (Movement Disorder)
01/2017
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
01/2016
1Metabolic Diseases (Metabolic Disease)
12/2014
1Fibrosis (Cirrhosis)
01/2014
1Acidosis
08/2012
1Transaldolase Deficiency
11/2010
1Cystinosis
04/2008

Drug/Important Bio-Agent (IBA)

4EnzymesIBA
01/2020 - 04/2008
2IsomerasesIBA
08/2019 - 12/2017
2Phosphates (Orthophosphate)IBA
12/2017 - 08/2012
2CreatineIBA
01/2017 - 01/2017
2TransaldolaseIBA
12/2014 - 01/2014
1Glial Fibrillary Acidic ProteinIBA
01/2022
1Phenylalanine (L-Phenylalanine)FDA Link
03/2021
1Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)IBA
01/2020
1Aldehyde DehydrogenaseIBA
01/2020
1gamma-Aminobutyric Acid (GABA)IBA
01/2020
1arabitol (D-arabinitol)IBA
08/2019
1ribose-5-phosphateIBA
08/2019
1RibitolIBA
08/2019
1Ribose (D-Ribose)IBA
12/2017
1glycocyamineIBA
01/2017
1DNA (Deoxyribonucleic Acid)IBA
01/2017
1Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)IBA
01/2017
1TransketolaseIBA
01/2016
1RNA (Ribonucleic Acid)IBA
01/2014
1Biomarkers (Surrogate Marker)IBA
11/2010
1erythronic acidIBA
11/2010
1CarbohydratesIBA
04/2008
1ErythritolIBA
04/2008
1Phosphotransferases (Kinase)IBA
04/2008
1CreatinineIBA
04/2008
1sedoheptuloseIBA
04/2008