Familial autosomal recessive renal tubular acidosis: Importance of early diagnosis

Nephron - Physiology

Volumn 119, Issue 3, 2011, Pages

  Vivante, Asaf ^a,b   Lotan, Danny ^c   Pode Shakked, Naomi ^b   Landau, Daniel ^e   Svec, Peter ^f   Nampoothiri, Sheela ^g   Verma, Ishwar ^h   Abu Libdeh, Abdulsalam ⁱ   Bockenhauer, Detlef ^j   Dekel, Benjamin ^a,b   Anikster, Yair ^d  

^a Talpiot Medical Leadership Program   (Israel)

^b SHEBA MEDICAL CENTER   (Israel)

^c Pediatric Nephrology Unit   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

^e BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^f Physics and Informatics   (Slovakia)

^g AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

^h SIR GANGA RAM HOSPITAL   (India)

ⁱ Makassed Islamic Hospital   (Israel)

^j GREAT ORMOND STREET HOSPITAL   (United Kingdom)

more..

Author keywords

ATP6V1B1; CAII; Kidney development; Renal tubular acidosis

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHRONIC KIDNEY DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; FOLLOW UP; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC TRANSCRIPTION; GLOMERULUS FILTRATION RATE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KIDNEY CALCIFICATION; KIDNEY DEVELOPMENT; KIDNEY TUBULE ACIDOSIS; MALE; MEDICAL RECORD REVIEW; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD;

ACIDOSIS, RENAL TUBULAR; ADOLESCENT; CARBONIC ANHYDRASE III; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; EARLY DIAGNOSIS; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GLOMERULAR FILTRATION RATE; HUMANS; KIDNEY; MALE; MUTATION; NEPHROCALCINOSIS; PEDIGREE; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA; VACUOLAR PROTON-TRANSLOCATING ATPASES; YOUNG ADULT;

EID: 80051644515     PISSN: 16602110     EISSN: 16602137     Source Type: Journal    
DOI: 10.1159/000329668     Document Type: Article

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