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Pediatric Nephrology, ISSN 0931-041X, 3/2013, Volume 28, Issue 3, pp. 387 - 399
Advances in genetic mapping and sequencing techniques have led to substantial progress in the study of rare monogenic (Mendelian) forms of abnormal blood... 
Pediatrics | Essential hypertension | Bartter’s syndrome | Gitelman’s syndrome | Pheochromocytoma | Medicine & Public Health | Liddle’s syndrome | Pseudohypoaldosteronism | Liddle's syndrome | Gitelman's syndrome | Bartter's syndrome | HEREDITARY HYPERTENSION | SENSORINEURAL DEAFNESS | HYPOKALEMIC ALKALOSIS | EPITHELIAL SODIUM-CHANNEL | BARTTERS-SYNDROME | CARDIOVASCULAR-DISEASE RISK | REMEDIABLE ALDOSTERONISM | UROLOGY & NEPHROLOGY | GENETIC-HETEROGENEITY | PEDIATRICS | AUTOSOMAL-DOMINANT HYPERTENSION | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease | Prognosis | Blood Pressure - genetics | Humans | Hypotension - therapy | Hypotension - diagnosis | Renal Tubular Transport, Inborn Errors - genetics | Renal Tubular Transport, Inborn Errors - therapy | Hypotension - genetics | Hypertension - physiopathology | Hypertension - metabolism | Kidney - metabolism | Phenotype | Animals | Hypotension - metabolism | Renal Tubular Transport, Inborn Errors - metabolism | Hypotension - physiopathology | Hypertension - genetics | Hypertension - therapy | Renal Tubular Transport, Inborn Errors - diagnosis | Hypertension - diagnosis | Renal Tubular Transport, Inborn Errors - physiopathology | Kidney - physiopathology | Hypertension | Complications and side effects | Evaluation | Molecular genetics | Blood pressure | Research | Kidney diseases | Risk factors
Journal Article
Nephrology, ISSN 1320-5358, 07/2016, Volume 21, Issue S1, pp. 67 - 71
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 08/2007, Volume 117, Issue 8, pp. 2086 - 2089
Journal Article
American Journal of Kidney Diseases, ISSN 0272-6386, 2013, Volume 62, Issue 2, pp. 377 - 383
Journal Article
Journal Article
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 01/2014, Volume 15, Issue 1, pp. 3 - 3
Background: Familial renal hypouricemia (RHUC) is a hereditary disease characterized by hypouricemia, high renal fractional excretion of uric acid (FE-UA) and... 
SLC2A9 mutations | Renal hypouricemia | p.Arg380Trp | Exercise-induced acute renal failure | p.Gly216Arg | URAT1 GENE | GLUCOSE-TRANSPORTER | GENETICS & HEREDITY | GLUT9 | MUTATIONS | IDENTIFICATION | TYPE-2 | Recurrence | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Child, Preschool | Male | Renal Tubular Transport, Inborn Errors - genetics | Young Adult | Organic Anion Transporters - genetics | Exercise | Pakistan | Acute Kidney Injury - complications | Base Sequence | Adult | Female | Uric Acid - blood | Glucose Transport Proteins, Facilitative - genetics | Renal Tubular Transport, Inborn Errors - diagnosis | Child | Urinary Calculi - genetics | Acute Kidney Injury - etiology | Urinary Calculi - complications | Urinary Calculi - diagnosis | Genotype | Renal Tubular Transport, Inborn Errors - therapy | Renal Tubular Transport, Inborn Errors - complications | Phenotype | Urinary Calculi - therapy | Adolescent | Heterozygote | Aged | Mutation | Organic Cation Transport Proteins - genetics | Renal Dialysis | Case studies | Care and treatment | Relapse | Analysis | Uric acid | Diagnosis | Acute renal failure | Risk factors | Diseases | Hemodialysis | Hospitalization | Family medical history | Kinases | Defects | Cricket | Physical fitness | Hypotheses | Hospitals | Pain | Consent | Kidney diseases
Journal Article
Journal of Clinical Gastroenterology, ISSN 0192-0790, 02/2012, Volume 46, Issue 2, pp. 93 - 114
Journal Article
1966, American lecture series, publication no. 624. American lectures in living chemistry, 253
Book
Reviews in Endocrine and Metabolic Disorders, ISSN 1389-9155, 03/2018, Volume 19, Issue 1, pp. 93 - 106
Journal Article