Robert Kleta Selected Research

Enzymes

1/2021	Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM.
1/2016	TRNT1 deficiency: clinical, biochemical and molecular genetic features.

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Robert Kleta Research Topics

Disease

11	Fanconi Syndrome (Syndrome, Fanconi) 01/2021 - 08/2002
11	Cystinosis 01/2012 - 08/2002
7	Epilepsy (Aura) 12/2023 - 05/2009
6	Seizures (Absence Seizure) 12/2023 - 01/2013
6	Nephrocalcinosis 01/2023 - 01/2014
6	Ataxia (Dyssynergia) 01/2021 - 05/2009
6	SeSAME syndrome 01/2021 - 08/2010
5	Membranous Glomerulonephritis (Membranous Nephropathy) 01/2023 - 02/2011
5	Deafness (Deaf Mutism) 01/2021 - 05/2009
4	Renal Tubular Acidosis (Distal Renal Tubular Acidosis) 01/2023 - 03/2006
4	Alkalosis 01/2022 - 05/2009
4	Renal Insufficiency (Renal Failure) 01/2021 - 05/2006
4	Sialic Acid Storage Disease (Salla Disease) 10/2005 - 07/2003
3	Polycystic Kidney Diseases (Polycystic Kidney Disease) 05/2023 - 01/2017
3	Nephrotic Syndrome (Syndrome, Nephrotic) 01/2023 - 12/2013
3	Gitelman Syndrome 01/2022 - 01/2018
3	Hypercalciuria 04/2017 - 01/2014
3	Photophobia (Light Sensitivity) 05/2006 - 03/2004
2	Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal) 01/2023 - 01/2017
2	Chronic Renal Insufficiency 01/2023 - 01/2017
2	Rickets (Rachitis) 01/2023 - 05/2006
2	Proteinuria 01/2022 - 10/2012
2	Fibrosis (Cirrhosis) 01/2021 - 01/2018
2	Disease Progression 07/2017 - 07/2003
2	IGA Glomerulonephritis (IGA Nephropathy) 07/2017 - 01/2017
2	Hypertension (High Blood Pressure) 07/2016 - 05/2006
2	Dystonia (Limb Dystonia) 06/2015 - 04/2013
2	Microcephaly 03/2015 - 10/2013
2	Optic Atrophy 06/2010 - 07/2002
2	Muscular Diseases (Myopathy) 08/2007 - 05/2005
1	Cystic Kidney Diseases (Cystic Kidney Disease) 12/2023
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 12/2023
1	Short Qt Syndrome 12/2023
1	Rare Diseases (Rare Disease) 12/2023
1	Parkinson Disease (Parkinson's Disease) 12/2023
1	Tremor (Tremors) 12/2023
1	Glucose Intolerance 12/2023
1	Long QT Syndrome 12/2023
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 05/2023
1	Hyperinsulinism (Hyperinsulinemia) 05/2023
1	Hyperplasia 05/2023
1	Inflammation (Inflammations) 05/2023
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 05/2023
1	Autoimmune Diseases (Autoimmune Disease) 01/2023
1	Kidney Calculi (Kidney Stone) 01/2023
1	Lipoid Nephrosis (Glomerulonephritis, Minimal Change) 01/2023
1	Osteomalacia 01/2023
1	Failure to Thrive 01/2023
1	Genetic Risk Score 01/2023
1	Nephrolithiasis 01/2023
1	Thrombotic Thrombocytopenic Purpura 01/2022
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2022
1	Hypokalemia 01/2021
1	Renovascular Hypertension (Goldblatt Syndrome) 10/2020
1	Necrosis 01/2020
1	Type 1 Maturity-Onset Diabetes of the Young 12/2019

Drug/Important Bio-Agent (IBA)

10	SaltsIBA 01/2022 - 05/2009
7	Cysteamine (Mercaptamine)FDA Link 08/2007 - 10/2004
6	Proteins (Proteins, Gene)FDA Link 12/2023 - 03/2015
6	Cystine (L-Cystine)IBA 05/2006 - 08/2002
4	AntigensIBA 01/2023 - 10/2012
4	ElectrolytesIBA 01/2023 - 08/2002
4	N-Acetylneuraminic Acid (Sialic Acid)IBA 10/2005 - 07/2003
3	phosphomannomutaseIBA 05/2023 - 01/2017
3	dirhodium tetraacetate (DRTA)IBA 01/2023 - 01/2017
3	MagnesiumIBA 09/2019 - 07/2017
2	Phospholipase A2 ReceptorsIBA 01/2023 - 03/2013
2	AcidsIBA 01/2023 - 01/2021
2	NucleotidesIBA 12/2021 - 01/2012
2	InflammasomesIBA 01/2021 - 01/2018
2	EnzymesIBA 01/2021 - 01/2016
2	DNA (Deoxyribonucleic Acid)IBA 12/2019 - 01/2018
2	CreatinineIBA 06/2017 - 05/2006
2	HLA-DQA1 antigen (HLA DQA1)IBA 01/2017 - 02/2011
2	CalciumIBA 12/2016 - 01/2014
2	Phosphates (Orthophosphate)IBA 02/2016 - 08/2002
2	AntibodiesIBA 10/2012 - 08/2002
2	Immunoglobulin G (IgG)IBA 10/2012 - 03/2004
2	3-methylglutaconic acidIBA 06/2010 - 07/2002
2	3-methylglutaric acidIBA 06/2010 - 07/2002
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 12/2023
1	AntralIBA 05/2023
1	Congenital disorder of glycosylation type 1AIBA 05/2023
1	ThrombospondinsIBA 01/2023
1	AutoantibodiesIBA 01/2023
1	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2023
1	SteroidsIBA 01/2023
1	HLA Antigens (Human Leukocyte Antigens)IBA 01/2022
1	Member 3 Solute Carrier Family 12IBA 01/2022
1	Mitochondrial DNA (mtDNA)IBA 01/2022
1	ThiazidesIBA 01/2022
1	Extracellular Matrix ProteinsIBA 12/2021
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2021
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2021
1	Adenosine Triphosphate (ATP)IBA 01/2021
1	CreatineIBA 01/2021
1	A-factor (Streptomyces)IBA 10/2020
1	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 12/2019

Therapy/Procedure

7	Therapeutics 01/2023 - 11/2004
2	Kidney Transplantation 05/2006 - 11/2004