ISSN:
1432-1076
Schlagwort(e):
Renal tubular acidosis
;
Cerebral calcification
;
Mental retardation
;
Carbonic anhydrase II deficiency
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
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.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF02171561
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