{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:24:55Z","timestamp":1760189095614,"version":"3.37.3"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[1988,8,1]],"date-time":"1988-08-01T00:00:00Z","timestamp":586396800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"General Clinical Research Center Branch, Division of Research Facilities and Resources, National Institute of Health","award":["RR-00036"],"award-info":[{"award-number":["RR-00036"]}]},{"name":"Shriners Hospitals for Crippled Children"},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["#A122359","#GM34182"],"award-info":[{"award-number":["#A122359","#GM34182"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Foundation, March of Dimes","award":["#6\u2013407"],"award-info":[{"award-number":["#6\u2013407"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1988,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>We explored the effects of transfusion of carbonic anhydrase II (CA-II)-replete erythrocytes on systemic pH, serum electrolytes, and urinary acidification of a patient with CA-II deficiency. Pretransfusion studies documented hyperchloremic acidosis, increased urinary pH with decreased titratable acidity, and profound CA-II deficiency in erythrocytes. During transfusion, CA-II in circulating erythrocytes increased to above the half-normal levels seen in asymptomatic heterozygote carriers of CA-II deficiency. However, no significant change occurred in venous, arterial or urinary pH, serum electrolytes, and urinary acid excretion during the transfusion or during the subsequent 60 hr of observation. These studies argue that the renal acidification defect in CA-II deficiency results from deficiency of CA-II in the renal parenchyma, and is not secondary to deficiency of CA-II in erythrocytes. Bone marrow transplantation is not a promising approach to correct the renal manifestations of CA-II deficiency.<\/jats:p>","DOI":"10.1002\/jbmr.5650030404","type":"journal-article","created":{"date-parts":[[2010,2,3]],"date-time":"2010-02-03T18:12:39Z","timestamp":1265220759000},"page":"385-388","source":"Crossref","is-referenced-by-count":9,"title":["Transfusion of carbonic anhydrase-replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (Carbonic Anhydrase-II Deficiency)"],"prefix":"10.1093","volume":"3","author":[{"given":"Michael P.","family":"Dr. Whyte","sequence":"first","affiliation":[{"name":"Division of Bone and Mineral Diseases, Department of Medicine and Pediatrics, Washington University School of Medicine St Louis MO 63110"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"III","given":"Lotuce","family":"Lee Hamm","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William S.","family":"Sly","sequence":"additional","affiliation":[{"name":"E.A. Doisy Department of Biochemistry, St. Louis University School of Medicine, St. Louis, MO 63104"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[1988,8,1]]},"reference":[{"key":"2024012712194127400_bib1","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/0002-9343(80)90501-X","article-title":"Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters.","volume":"69","author":"Whyte","year":"1980","journal-title":"Am J Med"},{"key":"2024012712194127400_bib2","doi-asserted-by":"crossref","first-page":"2752","DOI":"10.1073\/pnas.80.9.2752","article-title":"Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.","volume":"80","author":"Sly","year":"1983","journal-title":"Proc Natl Acad Sci 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