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Pediatric Nephrology, ISSN 0931-041X, 2017, Volume 32, Issue 7, pp. 1123 - 1135
Magnesium is essential to the proper functioning of numerous cellular processes. Magnesium ion (Mg2+) deficits, as reflected in hypomagnesemia, can cause... 
Homeostasis | Thick ascending limb of Henle’s loop | Magnesium | Hereditary | Distal convoluted tubule | Kidney | PCBD1 CAUSE | FAMILIAL HYPOMAGNESEMIA | SENSORINEURAL DEAFNESS | ATAXIA | CALCIUM-SENSING RECEPTOR | HYPOPARATHYROIDISM | UROLOGY & NEPHROLOGY | Thick ascending limb of Henle's loop | PEDIATRICS | MUTATIONS | KENNY-CAFFEY-SYNDROME | BARTTER-SYNDROME | Seizures - blood | Hypokalemia - blood | Kidney Tubules, Distal - physiology | Humans | Renal Tubular Transport, Inborn Errors - genetics | Renal Reabsorption - genetics | Nephrocalcinosis - complications | Renal Tubular Transport, Inborn Errors - blood | Hypercalciuria - blood | Magnesium Deficiency - genetics | Magnesium Deficiency - complications | Renal Reabsorption - drug effects | Hypokalemia - drug therapy | Magnesium - physiology | Magnesium Deficiency - drug therapy | Hypercalciuria - genetics | Membrane Proteins - metabolism | Child | Hypokalemia - etiology | Renal Tubular Transport, Inborn Errors - drug therapy | Membrane Proteins - genetics | Nephrocalcinosis - drug therapy | Arrhythmias, Cardiac - etiology | Mitochondria - metabolism | Loop of Henle - physiology | Renal Tubular Transport, Inborn Errors - complications | Magnesium - therapeutic use | Mineralocorticoid Receptor Antagonists - therapeutic use | Hypercalciuria - complications | Hypercalciuria - drug therapy | Phenotype | Renal Elimination - genetics | Nephrocalcinosis - genetics | Epithelial Sodium Channel Blockers - therapeutic use | Seizures - etiology | Nephrocalcinosis - blood | Arrhythmias, Cardiac - blood | Mutation | Recommended Dietary Allowances | Hypokalemia - genetics | Magnesium - blood | Homeostasis - genetics | Complications and side effects | Care and treatment | Kidney failure | Arrhythmia | Gene mutations | Research | Magnesium deficiency diseases | Review
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 09/2008, Volume 3, Issue 5, pp. 1430 - 1436
Background and objectives: Lowe syndrome is defined by congenital cataracts, mental retardation, and proximal tubulopathy and is due to mutations in OCRL.... 
OCULOCEREBRORENAL SYNDROME | HYPERCALCIURIA | GENE | HYPOPHOSPHATEMIC RICKETS | TRAFFICKING | UROLOGY & NEPHROLOGY | GLYCOSURIA | MUTATIONS | OCRL1 | FANCONI-SYNDROME | DENT-DISEASE | Oculocerebrorenal Syndrome - genetics | Lysosomal Storage Diseases - physiopathology | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Acidosis, Renal Tubular - genetics | Child, Preschool | Oculocerebrorenal Syndrome - complications | Male | Renal Tubular Transport, Inborn Errors - genetics | Nephrocalcinosis - physiopathology | Albuminuria - physiopathology | Amino Acid Metabolism, Inborn Errors - genetics | Fanconi Syndrome - physiopathology | Adult | Female | Hypercalciuria - genetics | Fanconi Syndrome - genetics | Renal Tubular Transport, Inborn Errors - physiopathology | Child | Oculocerebrorenal Syndrome - physiopathology | Glycosuria - physiopathology | Kidney Tubules, Proximal - physiopathology | Phosphoric Monoester Hydrolases - genetics | Glomerular Filtration Rate | Glycosuria - genetics | Europe | Hypercalciuria - physiopathology | Lysosomal Storage Diseases - genetics | Proteinuria - genetics | Proteinuria - physiopathology | Albuminuria - genetics | Phenotype | Nephrocalcinosis - genetics | Hypophosphatemia, Familial - genetics | Adolescent | Hypophosphatemia, Familial - physiopathology | Acidosis, Renal Tubular - physiopathology | Mutation | Hereditary Disease
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2013, Volume 21, Issue 10, pp. 1067 - 1073
Renal hypouricemia (RHUC) is a heterogeneous inherited disorder characterized by impaired tubular uric acid (UA) transport with severe complications, such as... 
SLC22A12 | uric acid transporters | URAT1 | renal hypouricemia | SLC2A9 | TRANSPORTER GENE | GOUT | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | RISK | IDENTIFICATION | EXCRETION | ASSOCIATION | SERUM URIC-ACID | MOLECULAR ANALYSIS | Xenopus | Urinary Calculi - ethnology | Humans | Endoplasmic Reticulum - metabolism | Male | Acute Kidney Injury - genetics | Renal Tubular Transport, Inborn Errors - genetics | Neuronal Ceroid-Lipofuscinoses - etiology | Organic Anion Transporters - metabolism | Uric Acid - urine | Organic Anion Transporters - genetics | Absorption | Neuronal Ceroid-Lipofuscinoses - genetics | Membrane Transport Proteins - genetics | Adult | Female | Renal Tubular Transport, Inborn Errors - diagnosis | Neuronal Ceroid-Lipofuscinoses - diagnosis | Child | Urinary Calculi - genetics | Acute Kidney Injury - etiology | Roma - genetics | Urinary Calculi - complications | Urinary Calculi - diagnosis | Organic Cation Transport Proteins - metabolism | Gene Frequency | Renal Tubular Transport, Inborn Errors - complications | Czech Republic | Animals | Pedigree | Acute Kidney Injury - diagnosis | Alleles | Heterozygote | Mutation | Organic Cation Transport Proteins - genetics | Renal Tubular Transport, Inborn Errors - ethnology | Urine | Phenotypes | Excretion | Kidneys | Disease | Uric acid | Patients | Medicine | Proteins | Hospitals | Clonal deletion | Protein folding | Rheumatism | Genetics | Neuronal ceroid lipofuscinosis | Endoplasmic reticulum | Metabolic disorders | Genotypes
Journal Article
Nephrology Dialysis Transplantation, ISSN 0931-0509, 07/2019, Volume 34, Issue 7, pp. 1154 - 1162
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 10/2013, Volume 28, Issue 10, pp. 1923 - 1942
Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and... 
Pediatrics | Nephrocalcinosis | Dent disease | Hereditary disorders | Crystalline nephropathy | Nephrolithiasis | Cystinuria | Familial hypomagnesemia with hypercalciuria and nephrocalcinosis | Kidney failure | Medicine & Public Health | Adenine phosphoribosyltransferase deficiency | Primary hyperoxaluria | 2,8-dihydroxyadeninuria | GENOTYPE-PHENOTYPE CORRELATION | I PRIMARY HYPEROXALURIA | HUMAN APRT GENE | KNOCKOUT MOUSE MODEL | FAMILIAL HYPOMAGNESEMIA | PRIMARY HYPEROXALURIA TYPE-1 | URINARY OXALATE EXCRETION | RENAL CHLORIDE CHANNEL | UROLOGY & NEPHROLOGY | PEDIATRICS | DENTS-DISEASE | Hypercalciuria - epidemiology | Humans | Dent Disease - therapy | Renal Insufficiency, Chronic - epidemiology | Renal Insufficiency, Chronic - therapy | Dent Disease - genetics | Renal Insufficiency, Chronic - genetics | Renal Insufficiency, Chronic - diagnosis | Dent Disease - epidemiology | Child | Cystinuria - diagnosis | Genetic Predisposition to Disease | Adenine Phosphoribosyltransferase - genetics | Risk Factors | Heredity | Nephrocalcinosis - therapy | Hyperoxaluria, Primary - epidemiology | Hyperoxaluria, Primary - genetics | Metabolism, Inborn Errors - diagnosis | Phenotype | Kidney Calculi - therapy | Nephrocalcinosis - genetics | Cystinuria - epidemiology | Nephrocalcinosis - diagnosis | Kidney Calculi - genetics | Urolithiasis - genetics | Cystinuria - therapy | Prognosis | Hyperoxaluria, Primary - diagnosis | Nephrocalcinosis - epidemiology | Metabolism, Inborn Errors - epidemiology | Metabolism, Inborn Errors - therapy | Renal Tubular Transport, Inborn Errors - genetics | Hyperoxaluria, Primary - therapy | Dent Disease - diagnosis | Renal Tubular Transport, Inborn Errors - epidemiology | Adenine Phosphoribosyltransferase - deficiency | Hypercalciuria - genetics | Renal Tubular Transport, Inborn Errors - diagnosis | Hypercalciuria - therapy | Hypercalciuria - diagnosis | Renal Tubular Transport, Inborn Errors - therapy | Metabolism, Inborn Errors - genetics | Cystinuria - genetics | Urolithiasis - therapy | Kidney Calculi - diagnosis | Animals | Urolithiasis - epidemiology | Kidney Calculi - epidemiology | Urolithiasis - diagnosis | Causes of | Genetic aspects | Research | Chronic kidney failure | Kidney stones | nephrocalcinosis | kidney failure | hereditary disorders | adenine phosphoribosyltransferase deficiency | cystinuria | primary hyperoxaluria | crystalline nephropathy | familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Journal Article
American Journal of Medicine, The, ISSN 0002-9343, 2013, Volume 126, Issue 3, pp. 256 - 263
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 2007, Volume 117, Issue 8, pp. 2260 - 2267
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 05/2012, Volume 7, Issue 5, pp. 801 - 809
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 3/2016, Volume 31, Issue 3, pp. 407 - 418
Journal Article
Journal Article
Archives of Medical Research, ISSN 0188-4409, 2014, Volume 45, Issue 4, pp. 325 - 330
Journal Article