{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T22:35:48Z","timestamp":1787870148843,"version":"build-2784847793"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2015,12,8]],"date-time":"2015-12-08T00:00:00Z","timestamp":1449532800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["CEN Case Rep"],"published-print":{"date-parts":[[2016,5]]},"DOI":"10.1007\/s13730-015-0205-y","type":"journal-article","created":{"date-parts":[[2015,12,9]],"date-time":"2015-12-09T00:32:48Z","timestamp":1449621168000},"page":"108-112","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Carbonic anhydrase II deficiency: report of a novel mutation"],"prefix":"10.1007","volume":"5","author":[{"given":"Aynaa","family":"Alsharidi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Al-Hamed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulkareem","family":"Alsuwaida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,12,8]]},"reference":[{"key":"205_CR1","doi-asserted-by":"crossref","first-page":"2752","DOI":"10.1073\/pnas.80.9.2752","volume":"80","author":"WS Sly","year":"1983","unstructured":"Sly WS, Hewett-Emmett D, Whyte MP, Yu Y-SL, Tashian RE. Carbonic anhydrase II deficiency identified as the Primary defect in the autosomal recessive syndrome of osteoporosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci USA. 1983;80:2752\u20136.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"4","key":"205_CR2","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1002\/humu.1380010404","volume":"1","author":"PY Hu","year":"1992","unstructured":"Hu PY, Roth DE, Skaggs LA, et al. A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries. Hum Mutat. 1992;1(4):288\u201392.","journal-title":"Hum Mutat"},{"key":"205_CR3","doi-asserted-by":"crossref","first-page":"4437","DOI":"10.1073\/pnas.80.14.4437","volume":"80","author":"PJ Venta","year":"1983","unstructured":"Venta PJ, Shows TB, Curtis PJ, Taishan RE. Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8. Proc Natl Acad Sci USA. 1983;80:4437\u201340.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"Suppl","key":"205_CR4","first-page":"34a","volume":"24","author":"WS Sly","year":"1972","unstructured":"Sly WS, Lang R, Avioli L, Haddad J, Lubowitz H, McAlister W. Recessive osteopetrosis: new clinical phenotype. Am J Hum Genet. 1972;24(Suppl):34a.","journal-title":"Am J Hum Genet"},{"key":"205_CR5","first-page":"269","volume":"29","author":"P Guibaud","year":"1972","unstructured":"Guibaud P, Larbre F, Freycon MT, Genoud J. Osteopetrose et acidoserenaletubulaire: deuxcas de cette association dansunefratrie. Archives Francaises de Pediatric. 1972;29:269\u201386.","journal-title":"Archives Francaises de Pediatric"},{"key":"205_CR6","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1111\/j.1651-2227.1972.tb15859.x","volume":"61","author":"M Vainsel","year":"1972","unstructured":"Vainsel M, Fondu P, Cadranel S, Rocmans C, Gepts W. Osteopetrosis associated with proximal and distal tubular acidosis. Acta Paediatr Scand. 1972;61:429\u201334.","journal-title":"Acta Paediatr Scand"},{"key":"205_CR7","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1111\/j.1469-8749.1980.tb04307.x","volume":"22","author":"A Ohlsson","year":"1980","unstructured":"Ohlsson A, Strak 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\u201384.","journal-title":"Dev Med Child Neurol"},{"issue":"A(4)","key":"205_CR8","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1002\/ajmg.a.32753","volume":"149","author":"MA Aldahmesh","year":"2009","unstructured":"Aldahmesh MA, Abu-Safieh L, Khan AO, Al-Hassnan ZN, Shaheen R, Rajab M, Monies D, Meyer BF, AlKuraya FS. Allelic heterogeneity in consanguineous population: Saudi experience with alstrom syndrome as an illustrative example. Am J Med Genet A. 2009;149(A(4)):662\u20135.","journal-title":"Am J Med Genet A"},{"key":"205_CR9","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1017\/S0022215100131706","volume":"109","author":"SM Zakzouk","year":"1995","unstructured":"Zakzouk SM, Sobki SH, Mansour F, Al-Anazi FH. Hearing impairment in association with distal renal tubular acidosis among Saudi children. J Laryngol Otol. 1995;109:930\u20134.","journal-title":"J Laryngol Otol"},{"key":"205_CR10","first-page":"70","volume":"14","author":"A Al-Ibrahim","year":"2003","unstructured":"Al-Ibrahim A, Al-Harbi M, Al-Musallam S. Paralysis episodes in carbonic anhydrase II deficiency. Saudi J Kidney Dis Transpl. 2003;14:70\u20134.","journal-title":"Saudi J Kidney Dis Transpl"},{"issue":"1","key":"205_CR11","first-page":"25","volume":"23","author":"M Awad","year":"2002","unstructured":"Awad M, Al-Ashwal A, Sakati N, Al-Abbad A, Bin-Abbas B. Long-term follow up of carbonic anhydrase II deficiency syndrome. Saudi Med J. 2002;23(1):25\u20139.","journal-title":"Saudi Med J"},{"key":"205_CR12","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1182\/blood.V97.7.1947","volume":"97","author":"C McMahon","year":"2001","unstructured":"McMahon C, Will A, Hu P, Shah GN, Sly WS, Smith OP. Bone marrow transplantation corrects the osteopetrosis in the carbonic anhydrase II deficiency syndrome. Blood. 2001;97:1947\u201350.","journal-title":"Blood"}],"container-title":["CEN Case Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-015-0205-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s13730-015-0205-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-015-0205-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,2]],"date-time":"2019-06-02T12:44:59Z","timestamp":1559479499000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s13730-015-0205-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12,8]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,5]]}},"alternative-id":["205"],"URL":"https:\/\/doi.org\/10.1007\/s13730-015-0205-y","relation":{},"ISSN":["2192-4449"],"issn-type":[{"value":"2192-4449","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,12,8]]}}}