Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome

European Journal of Pediatrics

Volumn 156, Issue 12, 1997, Pages 957-962

  Ismail, E A R ^a,b   Abul Saad, S ^b   Sabry, M A ^c  

^a Farwaniya Hospital ^*  (Kuwait)

^b FARWANIYA HOSPITAL   (Kuwait)

^c AL SABAH HOSPITAL   (Kuwait)

Author keywords

Carbonic anhydrase II; Nephrocalcinosis; Osteopetrosis; Renal tubular acidosis

Indexed keywords

CARBONATE DEHYDRATASE II;

ADOLESCENT; ALBERS SCHOENBERG DISEASE; ARTICLE; BRAIN CALCIFICATION; CARBONATE DEHYDRATASE II DEFICIENCY; CASE REPORT; DEVELOPMENTAL DISORDER; ENZYME DEFICIENCY; FACE MALFORMATION; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; KIDNEY CALCIFICATION; KIDNEY TUBULE ACIDOSIS; KUWAIT; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; UROLITHIASIS;

ADOLESCENT; ARABS; CARBONIC ANHYDRASES; CHILD, PRESCHOOL; DNA; FEMALE; HOMOZYGOTE; HUMANS; KUWAIT; MALE; METABOLISM, INBORN ERRORS; MUTATION; NEPHROCALCINOSIS; PHENOTYPE; SYNDROME; URINARY CALCULI;

EID: 15144338846     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050751     Document Type: Article

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