title: Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity?
abstract: The clinical and biochemical findings in an Italian sibship affected by carbonic anhydrase II deficiency are described. Evidence of clinical heterogeneity and an increased frequency of the disease in the Mediterranean area and the Middle East are discussed.
authors.affiliation: Department of Paediatrics, II Facolta di Medicina, Naples, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Strisciuglio
authors.forename: R
authors.initials: R
authors.lastname: Sartorio
authors.forename: C
authors.initials: C
authors.lastname: Pecoraro
authors.forename: F
authors.initials: F
authors.lastname: Lotito
authors.forename: W S
authors.initials: WS
authors.lastname: Sly
mesh_terms: D000141:Acidosis, Renal Tubular / Q000453:epidemiology / Q000235:genetics; D000293:Adolescent; D000352:Africa, Northern / Q000453:epidemiology; D001928:Brain Diseases, Metabolic / Q000453:epidemiology / Q000235:genetics; D002114:Calcinosis / Q000453:epidemiology / Q000235:genetics; D002256:Carbonic Anhydrases / Q000172:deficiency* / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008877:Middle East / Q000453:epidemiology
chemical_list: D002256:Carbonic Anhydrases