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Journal Article
Seminars in Cell and Developmental Biology, ISSN 1084-9521, 07/2019, Volume 91, pp. 104 - 110
Congenital abnormalities of the kidney and urinary tract (CAKUT) form the leading cause of pediatric end-stage renal disease. Knowledge on the molecular... 
Kidney disease | Genetics | CAKUT | Etiology | Next generation sequencing | URINARY-TRACT MALFORMATIONS | RENAL ABNORMALITIES | CANDIDATE GENES | KIDNEY DEVELOPMENT | DEVELOPMENTAL BIOLOGY | MICE LACKING | CHILDREN | CELL BIOLOGY | RENIN-ANGIOTENSIN SYSTEM | MONOGENIC CONGENITAL-ANOMALIES | DISEASE | MUTATIONS | Chronic kidney failure | Development and progression
Journal Article
Nature Reviews Nephrology, ISSN 1759-5061, 02/2017, Volume 13, Issue 2, pp. 67 - 68
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 05/2016, Volume 374, Issue 19, pp. 1888 - 1890
Journal Article
Nature Reviews. Nephrology, ISSN 1759-5061, 01/2017, Volume 13, Issue 2, pp. 67 - 68
The genetic background of many kidney diseases is complex and involves multiple genes, genetic variants and molecular pathways. Here, we look at how... 
UROLOGY & NEPHROLOGY | ASSOCIATION | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | Kidney Diseases - diagnosis | Genetic Markers | Disease Progression | Kidney Diseases - genetics | Genetic aspects | Kidney diseases | Gene mutations | Analysis | Risk factors
Journal Article
Lancet, The, ISSN 0140-6736, 2014, Volume 383, Issue 9931, pp. 1844 - 1859
Summary At least 10% of adults and nearly all children who receive renal-replacement therapy have an inherited kidney disease. These patients rarely die when... 
Internal Medicine | MEDICINE, GENERAL & INTERNAL | PROTEIN | UMOD GENE | PHARMACOLOGICAL CHAPERONES | GENERATION | HYPOKALEMIC ALKALOSIS | MUTATIONS | NEPHROTIC SYNDROME | IDENTIFICATION | CELL | BARTTERS-SYNDROME | Care and treatment | Kidney diseases | Health aspects | Patient outcomes | Genetics | Nephrology | Mutation
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 634 - 643
Journal Article
Kidney International, ISSN 0085-2538, 01/2017, Volume 91, Issue 1, pp. 24 - 33
Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease... 
hypokalemic metabolic alkalosis | hypomagnesemia | SLC12A3 | thiazide-sensitive sodium-chloride cotransporter | salt-losing tubulopathy | SERUM POTASSIUM | FOLLOW-UP | HYPOKALEMIC ALKALOSIS | THERAPEUTIC APPROACH | BARTTERS-SYNDROME | BLOOD-PRESSURE | NCC GENE | GLUCOSE-METABOLISM | UROLOGY & NEPHROLOGY | CHANNEL GENE | SODIUM-CHLORIDE COTRANSPORTER | Rare Diseases - genetics | Gitelman Syndrome - drug therapy | Genetic Testing | Hypokalemia - blood | Magnesium - administration & dosage | Humans | Bartter Syndrome - diagnosis | Chloride Channels - genetics | Bartter Syndrome - urine | Angiotensin-Converting Enzyme Inhibitors - therapeutic use | Bartter Syndrome - genetics | Solute Carrier Family 12, Member 3 - genetics | Ultrasonography | Bartter Syndrome - blood | Diagnosis, Differential | Chondrocalcinosis - prevention & control | Sodium Chloride, Dietary - therapeutic use | Calcium - urine | Consensus Development Conferences as Topic | Magnesium - therapeutic use | Phenotype | Anti-Inflammatory Agents, Non-Steroidal - therapeutic use | Potassium - administration & dosage | Chondrocalcinosis - etiology | Potassium - therapeutic use | Gitelman Syndrome - complications | Gitelman Syndrome - diagnosis | Quality of Life | Potassium - blood | Gitelman Syndrome - genetics | Mutation | Angiotensin Receptor Antagonists - therapeutic use | Dietary Supplements | Hypokalemia - genetics | Magnesium - blood | Practice Guidelines as Topic
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2008, Volume 3, Issue 1, pp. 22 - 22
Journal Article
Journal Article