René Santer Selected Research

Fanconi Syndrome (Syndrome, Fanconi)

11/2021	Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants.
1/2020	Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.
3/2012	Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.
8/2011	Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis.
12/2005	Elements of diabetic nephropathy in a patient with GLUT 2 deficiency.
1/2002	The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.

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René Santer Research Topics

Disease

6	Hypoglycemia (Reactive Hypoglycemia) 01/2022 - 01/2002
6	Fanconi Syndrome (Syndrome, Fanconi) 11/2021 - 01/2002
5	Phenylketonurias (Phenylketonuria) 01/2016 - 04/2006
4	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2022 - 03/2012
4	Intellectual Disability (Idiocy) 11/2019 - 02/2015
3	Brain Diseases (Brain Disorder) 01/2021 - 02/2016
3	Movement Disorders (Movement Disorder) 01/2021 - 06/2012
3	Mucolipidoses (Sialidosis) 03/2020 - 01/2015
3	Hyperammonemia 11/2019 - 09/2016
3	Inborn Urea Cycle Disorders 11/2019 - 05/2012
3	Disease Progression 09/2014 - 11/2009
2	Congenital Lactase Deficiency 01/2022 - 07/2015
2	Type 2 Diabetes Mellitus (MODY) 12/2021 - 01/2010
2	Liver Failure 01/2020 - 04/2014
2	Inborn Genetic Diseases (Disease, Hereditary) 11/2019 - 05/2019
2	Epilepsy (Aura) 05/2019 - 06/2012
2	Maple Syrup Urine Disease 01/2019 - 09/2017
2	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 11/2017 - 01/2016
2	Acidosis 10/2016 - 09/2013
2	Hyperinsulinism (Hyperinsulinemia) 09/2016 - 03/2004
2	Fructose-1,6-Diphosphatase Deficiency (Fructose 1,6 Diphosphatase Deficiency) 04/2016 - 09/2013
2	Glycogen Storage Disease Type II (Pompe's Disease) 01/2015 - 02/2010
2	Failure to Thrive 01/2015 - 02/2004
2	Hearing Loss (Hearing Impairment) 01/2015 - 11/2009
2	Hepatocellular Carcinoma (Hepatoma) 08/2014 - 08/2006
2	Deoxyguanosine Kinase Deficiency 04/2014 - 08/2006
2	Hypertriglyceridemia 03/2014 - 09/2013
2	Lactic Acidosis 09/2013 - 03/2007
2	Deafness (Deaf Mutism) 11/2009 - 03/2007
1	Glycogen Storage Disease (Glycogenosis) 01/2022
1	Abscess 01/2022
1	Neutropenia 01/2022
1	Anemia 01/2022
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 01/2022
1	Glycogen Storage Disease IB 01/2022
1	Reinfection 01/2022
1	Obesity 12/2021
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 09/2021
1	COVID-19 04/2021
1	autosomal recessive Segawa syndrome 01/2021
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2021
1	Infections 01/2021
1	Trifunctional Protein Deficiency With Myopathy And Neuropathy 01/2021
1	Muscle Hypotonia (Hypotonia) 01/2021
1	Acute Liver Failure (Fulminant Hepatic Failure) 12/2020
1	Optic Atrophy 01/2020
1	Pelger-Huet Anomaly 01/2020
1	Necrosis 01/2020
1	Dementia (Dementias) 05/2019
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 05/2019
1	Neurodevelopmental Disorders 10/2018
1	Neurologic Manifestations (Neurological Manifestations) 02/2018
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 11/2017

Drug/Important Bio-Agent (IBA)

8	Glucose (Dextrose)FDA LinkGeneric 12/2021 - 01/2002
8	EnzymesIBA 03/2020 - 06/2005
4	Galactose (Galactopyranose)FDA LinkGeneric 11/2021 - 01/2002
4	AcidsIBA 09/2013 - 03/2007
4	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 03/2012 - 01/2002
3	Proteins (Proteins, Gene)FDA Link 01/2020 - 09/2016
3	AmmoniaIBA 09/2016 - 05/2012
3	Phenylalanine (L-Phenylalanine)FDA Link 01/2016 - 04/2006
2	LactaseIBA 01/2022 - 07/2015
2	Neurotransmitter Agents (Neurotransmitter)IBA 01/2021 - 01/2021
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2021 - 02/2016
2	RNA (Ribonucleic Acid)IBA 01/2021 - 07/2008
2	ManganeseIBA 02/2018 - 12/2015
2	Lactic Acid (Lactate)FDA LinkGeneric 10/2016 - 11/2009
2	Glutamate DehydrogenaseIBA 09/2016 - 03/2004
2	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2016 - 02/2015
2	Biomarkers (Surrogate Marker)IBA 09/2013 - 11/2009
2	GlycogenIBA 03/2012 - 01/2002
2	Carnitine (L-Carnitine)FDA LinkGeneric 11/2009 - 03/2007
2	Methylmalonic AcidIBA 11/2009 - 03/2007
2	DNA (Deoxyribonucleic Acid)IBA 07/2008 - 06/2005
1	empagliflozinIBA 01/2022
1	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 01/2022
1	Lactase-Phlorizin HydrolaseIBA 01/2022
1	Pharmaceutical PreparationsIBA 01/2022
1	Blood Glucose (Blood Sugar)IBA 12/2021
1	Liver GlycogenIBA 11/2021
1	Peptides (Polypeptides)IBA 04/2021
1	Polysaccharides (Glycans)IBA 04/2021
1	Mitochondrial Trifunctional ProteinIBA 01/2021
1	Aromatic-L-Amino-Acid DecarboxylasesIBA 01/2021
1	Transfer RNA (tRNA)IBA 12/2020
1	Monomeric GTP-Binding ProteinsIBA 01/2020
1	Mitogen-Activated Protein KinasesIBA 01/2020
1	glycerol phenylbutyrateIBA 11/2019
1	Tripeptidyl-Peptidase 1IBA 05/2019
1	RNA Helicases (RNA Helicase)IBA 01/2019
1	p21-Activated KinasesIBA 10/2018
1	Trace Elements (Biometals)IBA 02/2018
1	WW Domain-Containing OxidoreductaseIBA 01/2018
1	Sulfoglycosphingolipids (Sulfatides)IBA 11/2017
1	Cerebroside-Sulfatase (Arylsulfatase A)IBA 11/2017
1	Bicarbonates (Hydrogen Carbonate)IBA 10/2016
1	Ketone BodiesIBA 10/2016

Therapy/Procedure

6	Liver Transplantation 09/2021 - 08/2006
4	Therapeutics 01/2021 - 01/2002
1	Enteral Nutrition (Feeding, Tube) 01/2020