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K E Niezen-Koning Selected Research
K E Niezen-Koning Research Topics
Disease
2
Glycogen Storage Disease Type II (Pompe's Disease)
01/2018 - 12/2007
2
Medium chain acyl CoA dehydrogenase deficiency
02/2008 - 10/2004
2
Hepatorenal form of glycogen storage disease
05/2000 - 04/2000
1
Dystonia (Limb Dystonia)
06/2016
1
Mental Disorders (Mental Disorder)
06/2016
1
Niemann-Pick Diseases (Niemann Pick Disease)
11/2012
1
Type B Niemann-Pick Disease
11/2012
1
Thrombocytopenia (Thrombopenia)
11/2012
1
Anemia
11/2012
1
Type A Niemann-Pick Disease
11/2012
1
Lung Diseases (Lung Disease)
11/2012
1
Intellectual Disability (Idiocy)
06/2011
1
Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
06/2011
1
Cutis Laxa
06/2011
1
Sudden Hearing Loss (Sudden Deafness)
06/2011
1
Congenital Disorders of Glycosylation
06/2011
1
Epilepsy (Aura)
06/2011
1
Sensorineural Hearing Loss
06/2011
1
Cardiac Sudden Death (Sudden Cardiac Arrest)
06/2011
1
Lysosomal Storage Diseases (Lysosomal Storage Disease)
12/2007
1
Glycogen Storage Disease (Glycogenosis)
08/2007
1
Pre-Eclampsia (Preeclampsia)
08/2007
1
HPRT-Related Gout
02/2007
1
Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome)
02/2007
1
Renal Insufficiency (Renal Failure)
02/2007
1
Acute Kidney Injury (Acute Renal Failure)
02/2007
1
Congenital Hypothyroidism (Cretinism)
10/2004
1
Phenylketonurias (Phenylketonuria)
10/2004
1
Adrenogenital Syndrome
10/2004
1
Cardiomyopathies (Cardiomyopathy)
12/2000
1
Disease Progression
09/2000
1
Metabolic Diseases (Metabolic Disease)
07/2000
1
Liver Diseases (Liver Disease)
07/2000
1
End Stage Liver Disease
07/2000
1
Glycogen Storage Disease Type I
05/2000
1
Glycogen Storage Disease IB
05/2000
Drug/Important Bio-Agent (IBA)
3
Acids
IBA
06/2016 - 12/2007
3
Enzymes
IBA
02/2008 - 05/2000
2
Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)
IBA
02/2008 - 10/2004
2
Glucose-6-Phosphatase (Glucose 6 Phosphatase)
IBA
05/2000 - 04/2000
1
Nucleotides
IBA
01/2018
1
Serotonin Agents
IBA
06/2016
1
Serotonin (5 Hydroxytryptamine)
IBA
06/2016
1
Dopamine (Intropin)
FDA Link
Generic
06/2016
1
Sphingomyelin Phosphodiesterase (Sphingomyelinase)
IBA
11/2012
1
neodymium pyrocatechin disulfonate (NPD)
IBA
11/2012
1
Adenosine Triphosphatases (ATPase)
IBA
06/2011
1
Copper
IBA
06/2011
1
Iron
IBA
06/2011
1
phenylpropionyl-coenzyme A
IBA
02/2008
1
alpha-Glucosidases (Acid Maltase)
IBA
12/2007
1
Glycogen
IBA
08/2007
1
Carnitine-Acylcarnitine Translocase Deficiency
IBA
08/2007
1
Uric Acid (Urate)
IBA
02/2007
1
Guanine
IBA
02/2007
1
Transferases
IBA
02/2007
1
Hypoxanthine
IBA
02/2007
1
3-methylcrotonyl CoA carboxylase 1 deficiency
IBA
12/2000
1
Carnitine (L-Carnitine)
FDA Link
Generic
12/2000
1
Proteins (Proteins, Gene)
FDA Link
09/2000
1
DNA (Deoxyribonucleic Acid)
IBA
05/2000
1
A-Form DNA (A-DNA)
IBA
05/2000
Therapy/Procedure
2
Therapeutics
12/2007 - 12/2000
1
Investigational Therapies (Experimental Therapy)
12/2007
1
Liver Transplantation
07/2000