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M S van der Knaap Selected Research

M S van der Knaap Research Topics

Disease

6Leukoencephalopathies
12/2012 - 12/2001
5Intellectual Disability (Idiocy)
07/2013 - 04/2000
32-Hydroxyglutaricaciduria
12/2009 - 06/2000
2Seizures (Absence Seizure)
08/2006 - 12/2000
2Epilepsy (Aura)
08/2006 - 04/2000
2Guanidinoacetate methyltransferase deficiency
08/2006 - 12/2000
2Alexander Disease (Alexander's Disease)
02/2006 - 05/2002
2Liver Failure
01/2005 - 06/2004
1Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
03/2011
1Constipation
03/2011
1Porencephaly
02/2011
1Scleroatonic muscular dystrophy
06/2008
1Bethlem myopathy
06/2008
15 Hypomyelinating Leukodystrophy
02/2008
1Telangiectasis (Telangiectasia)
01/2008
1Cerebroretinal Microangiopathy with Calcifications and Cysts
01/2008
1Cysts
01/2008
1Systemic Lupus Erythematosus (Libman-Sacks Disease)
12/2007
1Movement Disorders (Movement Disorder)
08/2006
1Atrophy
02/2006
1Canavan Disease (Leukodystrophy, Spongiform)
10/2005
1X-Linked Mental Retardation (Mental Retardation, X Linked)
01/2005
1Pelizaeus-Merzbacher Disease
05/2004
1Mitochondrial Diseases (Mitochondrial Disease)
02/2004
1Deafness (Deaf Mutism)
05/2002
1Jaundice (Icterus)
05/2002
1Kernicterus
05/2002
1Catatonic Schizophrenia
03/2002
1Cardiogenic Shock
02/2002
1Cardiomyopathies (Cardiomyopathy)
02/2002
1Megalencephalic leukoencephalopathy with subcortical cysts
04/2001
1Microcephaly
12/2000
1Hepatic Encephalopathy
12/2000
1Drug Resistant Epilepsy
04/2000

Drug/Important Bio-Agent (IBA)

3X-linked Creatine deficiencyIBA
07/2013 - 01/2005
3Lactic Acid (Lactate)FDA LinkGeneric
10/2008 - 02/2002
3CreatineIBA
08/2006 - 04/2000
2CollagenIBA
02/2011 - 06/2008
2Membrane Proteins (Integral Membrane Proteins)IBA
02/2008 - 04/2001
2Proteins (Proteins, Gene)FDA Link
05/2004 - 03/2002
1Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate ElevationIBA
12/2012
1Formaldehyde (Formol)FDA Link
03/2011
1Oxidoreductases (Dehydrogenase)IBA
12/2009
1Retinaldehyde (Retinal)IBA
01/2008
1Interferon-alpha (Interferon Alfa)IBA
12/2007
1glycocyamineIBA
08/2006
1MethyltransferasesIBA
08/2006
1DNA (Deoxyribonucleic Acid)IBA
02/2006
1aspartoacylaseIBA
10/2005
1Blood Proteins (Serum Proteins)IBA
01/2005
1AmmoniaIBA
01/2005
1TransaldolaseIBA
06/2004
1polyolIBA
06/2004
1Glial Fibrillary Acidic ProteinIBA
05/2002
1BilirubinIBA
05/2002
1CationsIBA
03/2002
1AcidsIBA
02/2002
1Peptide Initiation Factors (Initiation Factor)IBA
12/2001
1Eukaryotic Initiation Factor-2B (Eukaryotic Initiation Factor 2B)IBA
12/2001
1CreatinineIBA
12/2000
1Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)IBA
12/2000
1N-acetyl glutamate synthetase deficiencyIBA
12/2000
1Serine (L-Serine)FDA Link
12/2000
1alpha-hydroxyglutarateIBA
06/2000

Therapy/Procedure

1Critical Care (Surgical Intensive Care)
05/2002
1Phototherapy (Light Therapy)
05/2002