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K E Niezen-Koning Selected Research

Lysosomal Storage Diseases (Lysosomal Storage Disease)

12/2007Pompe disease: current state of treatment modalities and animal models.

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K E Niezen-Koning Research Topics

Disease

2Glycogen Storage Disease Type II (Pompe's Disease)
01/2018 - 12/2007
2Medium chain acyl CoA dehydrogenase deficiency
02/2008 - 10/2004
2Hepatorenal form of glycogen storage disease
05/2000 - 04/2000
1Dystonia (Limb Dystonia)
06/2016
1Mental Disorders (Mental Disorder)
06/2016
1Niemann-Pick Diseases (Niemann Pick Disease)
11/2012
1Type B Niemann-Pick Disease
11/2012
1Thrombocytopenia (Thrombopenia)
11/2012
1Anemia
11/2012
1Type A Niemann-Pick Disease
11/2012
1Lung Diseases (Lung Disease)
11/2012
1Intellectual Disability (Idiocy)
06/2011
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
06/2011
1Cutis Laxa
06/2011
1Sudden Hearing Loss (Sudden Deafness)
06/2011
1Congenital Disorders of Glycosylation
06/2011
1Epilepsy (Aura)
06/2011
1Sensorineural Hearing Loss
06/2011
1Cardiac Sudden Death (Sudden Cardiac Arrest)
06/2011
1Lysosomal Storage Diseases (Lysosomal Storage Disease)
12/2007
1Glycogen Storage Disease (Glycogenosis)
08/2007
1Pre-Eclampsia (Preeclampsia)
08/2007
1HPRT-Related Gout
02/2007
1Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome)
02/2007
1Renal Insufficiency (Renal Failure)
02/2007
1Acute Kidney Injury (Acute Renal Failure)
02/2007
1Congenital Hypothyroidism (Cretinism)
10/2004
1Phenylketonurias (Phenylketonuria)
10/2004
1Adrenogenital Syndrome
10/2004
1Cardiomyopathies (Cardiomyopathy)
12/2000
1Disease Progression
09/2000
1Metabolic Diseases (Metabolic Disease)
07/2000
1Liver Diseases (Liver Disease)
07/2000
1End Stage Liver Disease
07/2000
1Glycogen Storage Disease Type I
05/2000
1Glycogen Storage Disease IB
05/2000

Drug/Important Bio-Agent (IBA)

3AcidsIBA
06/2016 - 12/2007
3EnzymesIBA
02/2008 - 05/2000
2Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA
02/2008 - 10/2004
2Glucose-6-Phosphatase (Glucose 6 Phosphatase)IBA
05/2000 - 04/2000
1NucleotidesIBA
01/2018
1Serotonin AgentsIBA
06/2016
1Serotonin (5 Hydroxytryptamine)IBA
06/2016
1Dopamine (Intropin)FDA LinkGeneric
06/2016
1Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA
11/2012
1neodymium pyrocatechin disulfonate (NPD)IBA
11/2012
1Adenosine Triphosphatases (ATPase)IBA
06/2011
1CopperIBA
06/2011
1IronIBA
06/2011
1phenylpropionyl-coenzyme AIBA
02/2008
1alpha-Glucosidases (Acid Maltase)IBA
12/2007
1GlycogenIBA
08/2007
1Carnitine-Acylcarnitine Translocase DeficiencyIBA
08/2007
1Uric Acid (Urate)IBA
02/2007
1GuanineIBA
02/2007
1TransferasesIBA
02/2007
1HypoxanthineIBA
02/2007
13-methylcrotonyl CoA carboxylase 1 deficiencyIBA
12/2000
1Carnitine (L-Carnitine)FDA LinkGeneric
12/2000
1Proteins (Proteins, Gene)FDA Link
09/2000
1DNA (Deoxyribonucleic Acid)IBA
05/2000
1A-Form DNA (A-DNA)IBA
05/2000

Therapy/Procedure

2Therapeutics
12/2007 - 12/2000
1Investigational Therapies (Experimental Therapy)
12/2007
1Liver Transplantation
07/2000