Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome

Pediatric Nephrology

Volumn 21, Issue 3, 2006, Pages 423-426

  Lotan, Danny ^a,c   Eisenkraft, Arik ^a   Jacobsson, Jeffrey M ^a,c   Bar Yosef, Omer ^a   Kleta, Robert ^b   Gal, Nurit ^a   Raviv Zilka, Lisa ^a,c   Gore, Hagar ^a   Anikster, Yair ^a,c  

^a SHEBA MEDICAL CENTER   (Israel)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

CA2; Carbonic anhydrase II deficiency syndrome; Growth failure; Osteopetrosis; Primary pulmonary hypertension; Renal tubular acidosis

Indexed keywords

BICARBONATE; BRONCHODILATING AGENT; CARBONATE DEHYDRATASE II; DIURETIC AGENT; PROSTAGLANDIN; SILDENAFIL; STEROID;

ALBERS SCHOENBERG DISEASE; ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE RADIOGRAPHY; BRAIN CALCIFICATION; CARBONATE DEHYDRATASE II DEFICIENCY SYNDROME; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CRYPTORCHISM; DNA DETERMINATION; ECHOCARDIOGRAPHY; ENZYME DEFICIENCY; FACE DYSMORPHIA; FAILURE TO THRIVE; FAMILY; FOLLOW UP; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GROWTH DISORDER; HEART FAILURE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPERCHLOREMIC ACIDOSIS; HYPERREFLEXIA; KIDNEY TUBULE ACIDOSIS; MALE; MORTALITY; POLYDACTYLY; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; PULMONARY HYPERTENSION; RESPIRATORY FAILURE; TREATMENT OUTCOME; URINALYSIS;

ACIDOSIS, RENAL TUBULAR; BRAIN DISEASES; CALCINOSIS; CARBONIC ANHYDRASE II; CHILD, PRESCHOOL; HUMANS; HYPERTENSION, PULMONARY; INFANT; MALE; MENTAL RETARDATION; MUTATION; OSTEOPETROSIS; SYNDROME;

EID: 33244461992     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-005-2125-0     Document Type: Article

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