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Robert Kleta Selected Research

Fanconi Syndrome (Syndrome, Fanconi)

1/2021Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM.
12/2019Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A.
1/2018Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
7/2017Fainting Fanconi syndrome clarified by proxy: a case report.
1/2016Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.
2/2011New clues for nephrotoxicity induced by ifosfamide: preferential renal uptake via the human organic cation transporter 2.
5/2006Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation.
11/2004FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.
11/2004Pharmacological treatment of nephropathic cystinosis with cysteamine.
5/2004Renal glucosuria due to SGLT2 mutations.
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Robert Kleta Research Topics

Disease

11Fanconi Syndrome (Syndrome, Fanconi)
01/2021 - 08/2002
11Cystinosis
01/2012 - 08/2002
6SeSAME syndrome
01/2021 - 08/2010
6Ataxia (Dyssynergia)
01/2021 - 05/2009
6Epilepsy (Aura)
01/2021 - 05/2009
5Nephrocalcinosis
12/2021 - 01/2014
5Deafness (Deaf Mutism)
01/2021 - 05/2009
5Seizures (Absence Seizure)
11/2018 - 01/2013
4Alkalosis
01/2022 - 05/2009
4Renal Insufficiency (Renal Failure)
01/2021 - 05/2006
4Membranous Glomerulonephritis (Membranous Nephropathy)
01/2018 - 02/2011
4Sialic Acid Storage Disease (Salla Disease)
10/2005 - 07/2003
3Gitelman Syndrome
01/2022 - 01/2018
3Renal Tubular Acidosis (Distal Renal Tubular Acidosis)
01/2019 - 03/2006
3Hypercalciuria
04/2017 - 01/2014
3Photophobia (Light Sensitivity)
05/2006 - 03/2004
2Proteinuria
01/2022 - 10/2012
2Polycystic Kidney Diseases (Polycystic Kidney Disease)
12/2021 - 01/2017
2Fibrosis (Cirrhosis)
01/2021 - 01/2018
2Disease Progression
07/2017 - 07/2003
2IGA Glomerulonephritis (IGA Nephropathy)
07/2017 - 01/2017
2Hypertension (High Blood Pressure)
07/2016 - 05/2006
2Dystonia (Limb Dystonia)
06/2015 - 04/2013
2Microcephaly
03/2015 - 10/2013
2Optic Atrophy
06/2010 - 07/2002
2Muscular Diseases (Myopathy)
08/2007 - 05/2005
1Mitochondrial Diseases (Mitochondrial Disease)
01/2022
1Thrombotic Thrombocytopenic Purpura
01/2022
1Hypokalemia
01/2021
1Renovascular Hypertension (Goldblatt Syndrome)
10/2020
1Necrosis
01/2020
1Type 1 Maturity-Onset Diabetes of the Young
12/2019
1Intellectual Disability (Idiocy)
11/2018
1Kidney Diseases (Kidney Disease)
01/2018
1Cakut
08/2017
1Cardiac Arrhythmias (Arrythmia)
07/2017
1Kearns-Sayre Syndrome
07/2017
1Chronic Kidney Failure (Chronic Renal Failure)
06/2017
1Nephrosis
06/2017
1Cystinuria
04/2017
1Hyperoxaluria (Oxaluria)
04/2017
1Nonsyndromic Deafness
02/2017
1Amelogenesis imperfecta nephrocalcinosis
02/2017
1Acidosis
01/2017
1Hypoglycemia (Reactive Hypoglycemia)
01/2017
1Lupus Nephritis
01/2017
1Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal)
01/2017

Drug/Important Bio-Agent (IBA)

10SaltsIBA
01/2022 - 05/2009
7Cysteamine (Mercaptamine)FDA Link
08/2007 - 10/2004
6Cystine (L-Cystine)IBA
05/2006 - 08/2002
5Proteins (Proteins, Gene)FDA Link
01/2022 - 03/2015
4N-Acetylneuraminic Acid (Sialic Acid)IBA
10/2005 - 07/2003
3ElectrolytesIBA
09/2019 - 08/2002
3MagnesiumIBA
09/2019 - 07/2017
3AntigensIBA
01/2017 - 10/2012
2phosphomannomutaseIBA
12/2021 - 01/2017
2NucleotidesIBA
12/2021 - 01/2012
2InflammasomesIBA
01/2021 - 01/2018
2EnzymesIBA
01/2021 - 01/2016
2DNA (Deoxyribonucleic Acid)IBA
12/2019 - 01/2018
2dirhodium tetraacetate (DRTA)IBA
01/2019 - 01/2017
2CreatinineIBA
06/2017 - 05/2006
2HLA-DQA1 antigen (HLA DQA1)IBA
01/2017 - 02/2011
2CalciumIBA
12/2016 - 01/2014
2Phosphates (Orthophosphate)IBA
02/2016 - 08/2002
2Immunoglobulin G (IgG)IBA
10/2012 - 03/2004
2AntibodiesIBA
10/2012 - 08/2002
23-methylglutaconic acidIBA
06/2010 - 07/2002
23-methylglutaric acidIBA
06/2010 - 07/2002
1ThiazidesIBA
01/2022
1HLA Antigens (Human Leukocyte Antigens)IBA
01/2022
1Member 3 Solute Carrier Family 12IBA
01/2022
1Mitochondrial DNA (mtDNA)IBA
01/2022
1Extracellular Matrix ProteinsIBA
12/2021
1CreatineIBA
01/2021
1Fatty Acids (Saturated Fatty Acids)IBA
01/2021
1Adenosine Triphosphate (ATP)IBA
01/2021
1Mitochondrial Proteins (Mitochondrial Protein)IBA
01/2021
1AcidsIBA
01/2021
1A-factor (Streptomyces)IBA
10/2020
1Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA
12/2019
1ChloridesIBA
06/2018
1glycine amidinotransferase (arginine-glycine amidinotransferase)IBA
01/2018
1HLA-DR3 Antigen (HLA DR3 Antigen)IBA
01/2018
1Vitamin A (Retinol)FDA LinkGeneric
08/2017
1Tretinoin (Retinoic Acid)FDA LinkGeneric
08/2017
1Hypoglycemic Agents (Hypoglycemics)IBA
07/2017
1Immunoglobulin A (IgA)IBA
07/2017
1galactosyl-deficient IgA1IBA
07/2017
1Epidermal Growth Factor (EGF)IBA
07/2017
1Serum AlbuminIBA
06/2017
1purineIBA
04/2017
1Connexin 30IBA
02/2017
1Connexin 26IBA
02/2017
1Nonsense Codon (Nonsense Mutation)IBA
02/2017
1Phospholipids (Phosphatides)FDA LinkGeneric
01/2017
13' Untranslated Regions (3' UTR)IBA
01/2017
1phospholipase A2-activating proteinIBA
01/2017

Therapy/Procedure

6Therapeutics
06/2017 - 11/2004
2Kidney Transplantation
05/2006 - 11/2004