Variable clinical presentation of carbonic anhydrase deficiency: Evidence for heterogeneity?
- 1 February 1990
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 149 (5) , 337-340
- https://doi.org/10.1007/bf02171561
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.Keywords
This publication has 19 references indexed in Scilit:
- The Syndrome of Osteopetrosis, Renal Acidosis and Cerebral Calcification in Two SistersNeuropediatrics, 1988
- Positive Renal Response to Intravenous Acetazolamide in Patients with Carbonic Anhydrase II DeficiencyPediatric Research, 1985
- Carbonic Anhydrase II Deficiency in 12 Families with the Autosomal Recessive Syndrome of Osteopetrosis with Renal Tubular Acidosis and Cerebral CalcificationNew England Journal of Medicine, 1985
- Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.Proceedings of the National Academy of Sciences, 1983
- Osteopetrosis With Combined Proximal and Distal Renal Tubular AcidosisAmerican Journal of Kidney Diseases, 1982
- Renal Tubular Acidosis and Osteopetrosis in SiblingsNephron, 1981
- Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sistersThe American Journal of Medicine, 1980
- BONE-MARROW TRANSPLANTATION IN OSTEOPETROSISThe Lancet, 1977
- OSTEOPETROSIS ASSOCIATED WITH PROXIMAL AND DISTAL TUBULAR ACIDOSISActa Paediatrica, 1972
- Renal Bicarbonate Reabsorption and Hydrogen Ion Excretion in Normal Infants*Journal of Clinical Investigation, 1967