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Mirjam M C Wamelink Selected Research

Fibrosis (Cirrhosis)

1/2014Novel association of early onset hepatocellular carcinoma with transaldolase deficiency.

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Mirjam M C Wamelink Research Topics

Disease

3Intellectual Disability (Idiocy)
11/2022 - 01/2017
2succinic semialdehyde dehydrogenase deficiency
07/2023 - 01/2020
2Movement Disorders (Movement Disorder)
11/2022 - 01/2017
2Leukoencephalopathies
08/2019 - 12/2017
2Seizures (Absence Seizure)
01/2017 - 01/2017
1Inborn Genetic Diseases (Disease, Hereditary)
04/2024
1Cataract (Cataracts)
05/2023
1Epilepsy (Aura)
05/2023
1Pyle disease
01/2023
1Metachromatic Leukodystrophy (Sulfatide Lipidosis)
01/2022
1Phenylketonurias (Phenylketonuria)
03/2021
1Ribose 5-Phosphate Isomerase Deficiency
08/2019
1Language Development Disorders (Semantic-Pragmatic Disorder)
01/2017
1Guanidinoacetate methyltransferase deficiency
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
2gamma-Aminobutyric Acid (GABA)IBA
07/2023 - 01/2020
2IsomerasesIBA
08/2019 - 12/2017
2Phosphates (Orthophosphate)IBA
12/2017 - 08/2012
2CreatineIBA
01/2017 - 01/2017
2TransaldolaseIBA
12/2014 - 01/2014
1Sulfates (Sulfates, Inorganic)IBA
04/2024
1GlutaminaseIBA
05/2023
1Sulfate TransportersIBA
01/2023
1Galactose (Galactopyranose)FDA LinkGeneric
11/2022
1Glial Fibrillary Acidic ProteinIBA
01/2022
1Phenylalanine (L-Phenylalanine)FDA Link
03/2021
1Aldehyde DehydrogenaseIBA
01/2020
1Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)IBA
01/2020
1arabitol (D-arabinitol)IBA
08/2019
1ribose-5-phosphateIBA
08/2019
1RibitolIBA
08/2019
1Ribose (D-Ribose)IBA
12/2017
1DNA (Deoxyribonucleic Acid)IBA
01/2017
1glycocyamineIBA
01/2017
1Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)IBA
01/2017
1TransketolaseIBA
01/2016
1RNA (Ribonucleic Acid)IBA
01/2014
1erythronic acidIBA
11/2010
1Biomarkers (Surrogate Marker)IBA
11/2010
1sedoheptuloseIBA
04/2008
1ErythritolIBA
04/2008
1CarbohydratesIBA
04/2008
1Phosphotransferases (Kinase)IBA
04/2008
1CreatinineIBA
04/2008