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M S van der Knaap Selected Research
M S van der Knaap Research Topics
Disease
6
Leukoencephalopathies
12/2012 - 12/2001
5
Intellectual Disability (Idiocy)
07/2013 - 04/2000
3
2-Hydroxyglutaricaciduria
12/2009 - 06/2000
2
Seizures (Absence Seizure)
08/2006 - 12/2000
2
Epilepsy (Aura)
08/2006 - 04/2000
2
Guanidinoacetate methyltransferase deficiency
08/2006 - 12/2000
2
Alexander Disease (Alexander's Disease)
02/2006 - 05/2002
2
Liver Failure
01/2005 - 06/2004
1
Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
03/2011
1
Constipation
03/2011
1
Porencephaly
02/2011
1
Scleroatonic muscular dystrophy
06/2008
1
Bethlem myopathy
06/2008
1
5 Hypomyelinating Leukodystrophy
02/2008
1
Telangiectasis (Telangiectasia)
01/2008
1
Cerebroretinal Microangiopathy with Calcifications and Cysts
01/2008
1
Cysts
01/2008
1
Systemic Lupus Erythematosus (Libman-Sacks Disease)
12/2007
1
Movement Disorders (Movement Disorder)
08/2006
1
Atrophy
02/2006
1
Canavan Disease (Leukodystrophy, Spongiform)
10/2005
1
X-Linked Mental Retardation (Mental Retardation, X Linked)
01/2005
1
Pelizaeus-Merzbacher Disease
05/2004
1
Mitochondrial Diseases (Mitochondrial Disease)
02/2004
1
Deafness (Deaf Mutism)
05/2002
1
Jaundice (Icterus)
05/2002
1
Kernicterus
05/2002
1
Catatonic Schizophrenia
03/2002
1
Cardiogenic Shock
02/2002
1
Cardiomyopathies (Cardiomyopathy)
02/2002
1
Megalencephalic leukoencephalopathy with subcortical cysts
04/2001
1
Microcephaly
12/2000
1
Hepatic Encephalopathy
12/2000
1
Drug Resistant Epilepsy
04/2000
Drug/Important Bio-Agent (IBA)
3
X-linked Creatine deficiency
IBA
07/2013 - 01/2005
3
Lactic Acid (Lactate)
FDA Link
Generic
10/2008 - 02/2002
3
Creatine
IBA
08/2006 - 04/2000
2
Collagen
IBA
02/2011 - 06/2008
2
Membrane Proteins (Integral Membrane Proteins)
IBA
02/2008 - 04/2001
2
Proteins (Proteins, Gene)
FDA Link
05/2004 - 03/2002
1
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
IBA
12/2012
1
Formaldehyde (Formol)
FDA Link
03/2011
1
Oxidoreductases (Dehydrogenase)
IBA
12/2009
1
Retinaldehyde (Retinal)
IBA
01/2008
1
Interferon-alpha (Interferon Alfa)
IBA
12/2007
1
glycocyamine
IBA
08/2006
1
Methyltransferases
IBA
08/2006
1
DNA (Deoxyribonucleic Acid)
IBA
02/2006
1
aspartoacylase
IBA
10/2005
1
Blood Proteins (Serum Proteins)
IBA
01/2005
1
Ammonia
IBA
01/2005
1
Transaldolase
IBA
06/2004
1
polyol
IBA
06/2004
1
Glial Fibrillary Acidic Protein
IBA
05/2002
1
Bilirubin
IBA
05/2002
1
Cations
IBA
03/2002
1
Acids
IBA
02/2002
1
Peptide Initiation Factors (Initiation Factor)
IBA
12/2001
1
Eukaryotic Initiation Factor-2B (Eukaryotic Initiation Factor 2B)
IBA
12/2001
1
Creatinine
IBA
12/2000
1
Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)
IBA
12/2000
1
N-acetyl glutamate synthetase deficiency
IBA
12/2000
1
Serine (L-Serine)
FDA Link
12/2000
1
alpha-hydroxyglutarate
IBA
06/2000
Therapy/Procedure
1
Critical Care (Surgical Intensive Care)
05/2002
1
Phototherapy (Light Therapy)
05/2002