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Cited by 330

The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.

Carbonic Anhydrase II Deficiency in 12 Families with the Autosomal Recessive Syndrome of Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification

Sly, William S., Whyte, Michael P., Sundaram, Vasantha, Tashian, Richard E., Hewett-Emmett, David, Guibaud, Pierre, Vainsel, Marc, Baluarte, H. Jorge, Gruskin, Alan, Al-Mosawi, M., Sakati, Nadia, Ohlsson, Arne·1985·New England Journal of Medicine
DOI 10.1056/nejm198507183130302
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Abstract

Osteopetrosis with renal tubular acidosis and cerebral calcification was identified as a recessively inherited syndrome in 1972. In 1983, we reported a deficiency of carbonic anhydrase II, one of the isozymes of carbonic anhydrase, in three sisters with this disorder. We now describe our study of 18 similarly affected patients with this syndrome in 11 unrelated families of different geographic and ethnic origins. Virtual absence of the carbonic anhydrase II peak on high-performance liquid chromatography, of the esterase and carbon dioxide hydratase activities of carbonic anhydrase II, and of immunoprecipitable isozyme II was demonstrated on extracts of erythrocyte hemolysates from all patients studied. Reduced levels of isozyme II were found in obligate heterozygotes. These observations demonstrate the generality of the findings that we reported earlier in one family and provide further evidence that a deficiency of carbonic anhydrase II is the enzymatic basis for the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. We also summarize the clinical findings in these families, propose mechanisms by which a deficiency of carbonic anhydrase II could produce this metabolic disorder of bone, kidney, and brain, and discuss the clinical evidence for genetic heterogeneity in patients from different kindreds with this inborn error of metabolism.

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Crossref · 10.1056/nejm198507183130302

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Metadata

Authors
Sly, W. S., Whyte, M. P., Sundaram, V., Tashian, R. E., Hewett-Emmett, D., Guibaud, P., Vainsel, M., Baluarte, H. J., Gruskin, A., Al-Mosawi, M., Sakati, N., & Ohlsson, A.
Venue
New England Journal of Medicine
Publisher
Massachusetts Medical Society
Published
1985-07-18
Volume
313
Issue
3
Pages
139-145
ISSN
  • 0028-4793 (ISSN-L)
  • 1533-4406
DOI
10.1056/nejm198507183130302
OpenAlex
W1969283110
Cited by
330
References
14
FWCI
3.94
Type
journal article
Language
en
Open access
closed

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CoChat. (2026). Citation check: Carbonic Anhydrase II Deficiency in 12 Families with the Autosomal Recessive Syndrome of Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification. https://app.cochat.ai/papers/10.1056/nejm198507183130302
The paper
Sly, W. S., Whyte, M. P., Sundaram, V., Tashian, R. E., Hewett-Emmett, D., Guibaud, P., Vainsel, M., Baluarte, H. J., Gruskin, A., Al-Mosawi, M., Sakati, N., & Ohlsson, A. (1985). Carbonic Anhydrase II Deficiency in 12 Families with the Autosomal Recessive Syndrome of Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification. New England Journal of Medicine. https://doi.org/10.1056/nejm198507183130302

Data sources

Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.