{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,5]],"date-time":"2026-07-05T08:31:13Z","timestamp":1783240273263,"version":"3.54.6"},"reference-count":18,"publisher":"International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IRDR"],"published-print":{"date-parts":[[2023,8,31]]},"DOI":"10.5582\/irdr.2023.01033","type":"journal-article","created":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T22:27:59Z","timestamp":1692743279000},"page":"202-205","source":"Crossref","is-referenced-by-count":4,"title":["Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous &lt;i&gt;CA2&lt;\/i&gt; deletion"],"prefix":"10.5582","volume":"12","author":[{"given":"Luan Deives Rodrigues","family":"Leite","sequence":"first","affiliation":[{"name":"Oral Care Center for Inherited Diseases, Unit of Oral Health, University Hospital of Brasilia, University of Brasilia, Brasilia, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u00eamelly Karolliny Moreira","family":"Resende","sequence":"additional","affiliation":[{"name":"Oral Care Center for Inherited Diseases, Unit of Oral Health, University Hospital of Brasilia, University of Brasilia, Brasilia, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00eddia dos Santos","family":"Rosa","sequence":"additional","affiliation":[{"name":"Laboratory of Oral Histopathology, Department of Dentistry, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana Forte","family":"Mazzeu","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Genetics, Faculty of Medicine, University of Brasilia, Brasilia, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Livia Claudio de","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Unit of Pediatric Nephrology, University Hospital of Brasilia, University of Brasilia, Brasilia, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria do Carmo Sorci Dias","family":"Scher","sequence":"additional","affiliation":[{"name":"Unit of Pediatric Nephrology, University Hospital of Brasilia, University of Brasilia, Brasilia, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Carolina","family":"Acevedo","sequence":"additional","affiliation":[{"name":"Laboratory of Oral Histopathology, Department of Dentistry, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo Marcio","family":"Yamaguti","sequence":"additional","affiliation":[{"name":"Oral Care Center for Inherited Diseases, Unit of Oral Health, University Hospital of Brasilia, University of Brasilia, Brasilia, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3542","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Whyte MP. Carbonic anhydrase II deficiency. Bone. 2023; 169:116684.","DOI":"10.1016\/j.bone.2023.116684"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE. A phenocopy of CAII deficiency: A novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. J Med Genet. 2003; 40:115-121.","DOI":"10.1136\/jmg.40.2.115"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Bori E, Guo J, R\u00e1cz R, Burghardt B, F\u00f6ldes A, Ker\u00e9mi B, Harada H, Steward MC, Den Besten P, Bronckers AL, Varga G. Evidence for bicarbonate secretion by ameloblasts in a novel cellular model. J Dent Res. 2016; 95:588-596.","DOI":"10.1177\/0022034515625939"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Yin K, Paine ML. Bicarbonate transport during enamel maturation. Calcif Tissue Int. 2017; 101:457-464.","DOI":"10.1007\/s00223-017-0311-2"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Lin HM, Nakamura H, Noda T, Ozawa H. Localization of H<sup>+<\/sup>-ATPase and carbonic anhydrase II in ameloblasts at maturation. Calcif Tissue Int. 1994; 55:38-45.","DOI":"10.1007\/BF00310167"},{"key":"6","unstructured":"6. Awad M, Al-Ashwal AA, Sakati N, Al-Abbad AA, Bin-Abbas BS. Long-term follow up of carbonic anhydrase II deficiency syndrome. Saudi Med J. 2002; 23:25-29."},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Pang Q, Qi X, Jiang Y, Wang O, Li M, Xing X, Dong J, Xia W. Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families. Metab Brain Dis. 2015; 30:989-997.","DOI":"10.1007\/s11011-015-9660-6"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Alsemari A, Alsuhaibani M, Alhathlool R, Ali BM. Potential oligogenic disease of mental retardation, short stature, spastic paraparesis, and osteopetrosis. Appl Clin Genet. 2018; 11:129-134.","DOI":"10.2147\/TACG.S172176"},{"key":"9","doi-asserted-by":"publisher","unstructured":"9. Dong J, Ruan W, Duan X. Molecular-based phenotype variations in amelogenesis imperfecta. Oral Dis. 2023; doi: 10.1111\/odi.14599","DOI":"10.1111\/odi.14599"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17:405-424.","DOI":"10.1038\/gim.2015.30"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Hu P, Lim E, Ciccolella J, Strisciuglio P, Sly W. Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis. Hum Mutat. 1997; 9:383-387.","DOI":"10.1002\/(SICI)1098-1004(1997)9:5<383::AID-HUMU1>3.0.CO;2-5"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Sly WS, Whyte MP, Sundaram V, <i>et al<\/i>. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. N Engl J Med. 1985; 313:139-145.","DOI":"10.1056\/NEJM198507183130302"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Ismail EA, Abul Saad S, Sabry MA. Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome. Eur J Pediatr. 1997; 156:957-962.","DOI":"10.1007\/s004310050751"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Ohlsson A, Stark G, Sakati N. Marble brain disease: Recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families. Dev Med Child Neurol. 1980; 22:72-84.","DOI":"10.1111\/j.1469-8749.1980.tb04307.x"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Strisciuglio P, Sartorio R, Pecoraro C, Lotito F, Sly WS. Variable clinical presentation of carbonic anhydrase deficiency: Evidence for heterogeneity? Eur J Pediatr. 1990; 149:337-340.","DOI":"10.1007\/BF02171561"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Nagai R, Kooh SW, Balfe JW, Fenton T, Halperin ML. Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency: Pathogenesis of impaired acidification. Pediatr Nephrol. 1997; 11:633-636.","DOI":"10.1007\/s004670050354"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Hains DS, Chen X, Saxena V, Barr-Beare E, Flemming W, Easterling R, Becknell B, Schwartz GJ, Schwaderer AL. Carbonic anhydrase 2 deficiency leads to increased pyelonephritis susceptibility. Am J Physiol Renal Physiol. 2014; 307:F869-F880.","DOI":"10.1152\/ajprenal.00344.2014"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Koch MJ, B\u00fchrer R, Pioch T, Sch\u00e4rer K. Enamel hypoplasia of primary teeth in chronic renal failure. Pediatr Nephrol. 1999; 13:68-72.","DOI":"10.1007\/s004670050566"}],"container-title":["Intractable &amp; Rare Diseases Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/12\/3\/12_2023.01033\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T04:58:53Z","timestamp":1694235533000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/12\/3\/12_2023.01033\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,31]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.5582\/irdr.2023.01033","relation":{},"ISSN":["2186-361X","2186-3644"],"issn-type":[{"value":"2186-361X","type":"electronic"},{"value":"2186-3644","type":"print"}],"subject":[],"published":{"date-parts":[[2023,8,31]]},"article-number":"2023.01033"}}