Phenotypic variability in Bartter syndrome type I

Pediatric Nephrology

Volumn 14, Issue 10-11, 2000, Pages 940-945

  Bettinelli, Alberto ^a,b   Ciarmatori, Sonia ^c   Cesareo, Layla ^d   Tedeschi, Silvana ^d   Ruffa, Giuseppe ^f   Appiani, Aldo Claris ^b   Rosini, Augusto ^f   Grumieri, Gianpaolo ^d   Mercuri, Bruno ^f   Sacco, Michele ^f   Leozappa, Giovanna ^e   Binda, Silvana ^f   Cecconi, Milvia ^f   Navone, Carla ^f   Curcio, Cristina ^d   Syren, Marie Louise ^d   Casari, Giorgio ^c  

^a Clinica Pediatrica De Marchi   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^d PARKINSON INSTITUTE   (Italy)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f NONE

Author keywords

Bartter syndrome; Bumetanide sensitive cotransporter gene; Hypercalciuria; Hypokalemia; Metabolic alkalosis; Nephrocalcinosis; Nephrogenic diabetes insipidus

Indexed keywords

CHLORIDE; POTASSIUM; SODIUM;

ALKALOSIS; ALLELE; ARTICLE; BARTTER SYNDROME; CHILD; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYDRAMNIOS; HYPERCALCIURIA; HYPERCHLOREMIA; HYPERNATREMIA; HYPOKALEMIA; INFANT; KIDNEY CALCIFICATION; KIDNEY TUBULE ACIDOSIS; KIDNEY TUBULE DISORDER; MALE; METABOLIC ALKALOSIS; MISSENSE MUTATION; NEPHROGENIC DIABETES INSIPIDUS; NEWBORN PERIOD; PHENOTYPE; PREMATURITY; PRENATAL PERIOD; PRIORITY JOURNAL;

EID: 0033868928     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/PL00013418     Document Type: Article

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