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R Santer Selected Research

R Santer Research Topics

Disease

3Fanconi Syndrome (Syndrome, Fanconi)
11/2007 - 03/2002
2VLCAD deficiency
08/2009 - 08/2009
2Glycogen Storage Disease (Glycogenosis)
11/2007 - 05/2001
2Hepatomegaly
06/2007 - 03/2002
2Hypoglycemia (Reactive Hypoglycemia)
10/2003 - 03/2002
2Hyperinsulinism (Hyperinsulinemia)
08/2001 - 01/2001
1Propionic Acidemia
01/2012
1Pain (Aches)
08/2009
1Trifunctional Protein Deficiency With Myopathy And Neuropathy
08/2009
1Muscle Weakness
08/2009
1Alzheimer Disease (Alzheimer's Disease)
01/2009
1Lysosomal Storage Diseases (Lysosomal Storage Disease)
02/2008
1Fucosidosis
02/2008
1Glycogen Storage Disease Type Ix
11/2007
1Osteomalacia
05/2007
1Bone Resorption
05/2007
1Cataract (Cataracts)
10/2006
1Hepatorenal form of glycogen storage disease
01/2005
1Cardiomyopathies (Cardiomyopathy)
10/2003
1Epilepsy (Aura)
10/2003
1Disease Progression
07/2003
1Holocarboxylase Synthetase Deficiency
07/2003
1Growth Disorders
03/2002
1Congenital Abnormalities (Deformity)
03/2002
1Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
03/2002
1Phenylketonurias (Phenylketonuria)
02/2002
1Disseminated Intravascular Coagulation
12/2001
1Purpura
12/2001
1Vasculitis (Vasculitides)
12/2001
1Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome)
08/2001
1Glycogen Storage Disease IIIA
05/2001
1Hyperammonemia
01/2001
16 familial Hyperinsulinemic hypoglycemia
01/2001
1Congenital Hyperinsulinism
01/2001

Drug/Important Bio-Agent (IBA)

3Glucose (Dextrose)FDA LinkGeneric
06/2007 - 03/2002
2Galactose (Galactopyranose)FDA LinkGeneric
10/2006 - 03/2002
1Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA
01/2012
13-Hydroxyacyl-CoA DehydrogenaseIBA
08/2009
1Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA
08/2009
1Carnitine (L-Carnitine)FDA LinkGeneric
08/2009
1Mitochondrial Trifunctional ProteinIBA
08/2009
1Blood Glucose (Blood Sugar)IBA
01/2009
1alpha-L-Fucosidase (Fucosidase)IBA
02/2008
1BiotinidaseIBA
11/2007
1Alkaline PhosphataseIBA
05/2007
1Cathepsin KIBA
05/2007
1deoxypyridinolineIBA
05/2007
1von Willebrand FactorIBA
01/2005
1AntigensIBA
01/2005
1LipidsIBA
01/2005
1Malonic aciduriaIBA
10/2003
1malonyl-CoA decarboxylaseIBA
10/2003
1Biotin (Vitamin H)FDA Link
07/2003
1Ligases (Synthetase)IBA
07/2003
1GlycogenIBA
03/2002
1Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA
02/2002
1sapropterin (tetrahydrobiopterin)FDA Link
02/2002
1Phenylalanine (L-Phenylalanine)FDA Link
02/2002
1Dacarbazine (DIC)FDA LinkGeneric
12/2001
1Nonsense Codon (Nonsense Mutation)IBA
05/2001
1Glucan 1,4-alpha-GlucosidaseIBA
05/2001
1Glutamate DehydrogenaseIBA
01/2001
1EnzymesIBA
01/2001
1Leucine (L-Leucine)FDA Link
01/2001

Therapy/Procedure

2Therapeutics
08/2009 - 07/2003
1Diet Therapy (Therapy, Diet)
08/2009
1Pancreatectomy
08/2001