{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:22:17Z","timestamp":1761844937424,"version":"3.41.2"},"reference-count":22,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2018,7,31]],"date-time":"2018-07-31T00:00:00Z","timestamp":1532995200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"DOI":"10.3389\/fped.2018.00213","type":"journal-article","created":{"date-parts":[[2018,7,31]],"date-time":"2018-07-31T07:00:41Z","timestamp":1533020441000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":10,"title":["Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea"],"prefix":"10.3389","volume":"6","author":[{"given":"Emanuela","family":"di Palmo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcella","family":"Gallucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Tronconi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosalba","family":"Bergamaschi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"Cazzato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"La Scola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giampaolo","family":"Ricci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Pession","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2018,7,31]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"775","DOI":"10.1001\/archpedi.159.8.775","article-title":"Pediatric Obstructive Sleep Apnea Syndrome","volume":"159","author":"Guilleminault","year":"2005","journal-title":"Arch Pediatr Adolesc Med."},{"key":"B2","doi-asserted-by":"publisher","first-page":"e19","DOI":"10.1542\/peds.113.1.e19","article-title":"Planning adenotonsillectomy in children with obstructive sleep apnea: the role of overnight oximetry","volume":"113","author":"Nixon","year":"2004","journal-title":"Pediatrics"},{"key":"B3","first-page":"269","article-title":"Osteopetrosis and renal tubular acidosis","volume":"29","author":"Guibaud","year":"1972","journal-title":"Arch Fr Pediatr."},{"key":"B4","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1111\/j.1651-2227.1972.tb15859.x","article-title":"Osteopetrosis associated with proximal and distal tubular acidosis","volume":"61","author":"Vainsel","year":"1972","journal-title":"Acta Paediatr Scand."},{"key":"B5","doi-asserted-by":"publisher","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 USA."},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-4-5","article-title":"Osteopetrosis","author":"Stark","year":"2009","journal-title":"Orphanet J Rare Dis"},{"key":"B7","first-page":"159","article-title":"The cellular physiology of carbonic anhydrases","volume":"2","author":"Breton","year":"2001","journal-title":"JOP"},{"key":"B8","doi-asserted-by":"publisher","first-page":"2669","DOI":"10.1021\/bi962663s","article-title":"Catalysis and inhibition of human carbonic anhydrase IV","volume":"36","author":"Baird","year":"1997","journal-title":"Biochemistry"},{"key":"B9","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1016\/0009-9120(91)80005-N","article-title":"Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and\/or renal tubular acidosis","volume":"24","author":"Sly","year":"1991","journal-title":"Clin Biochem."},{"key":"B10","doi-asserted-by":"publisher","first-page":"989","DOI":"10.1007\/s11011-015-9660-6","article-title":"Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families","volume":"30","author":"Pang","year":"2015","journal-title":"Metab Brain Dis."},{"key":"B11","doi-asserted-by":"publisher","first-page":"634","DOI":"10.1007\/s004390050419","article-title":"Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus","volume":"99","author":"Fathallah","year":"1997","journal-title":"Hum Genet"},{"key":"B12","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1002\/humu.1380010404","article-title":"A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries","volume":"1","author":"Hu","year":"1992","journal-title":"Hum Mutat."},{"key":"B13","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1002\/humu.9266","article-title":"Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation","volume":"24","author":"Shah","year":"2004","journal-title":"Hum Mutat."},{"key":"B14","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1136\/jmg.40.2.115","article-title":"A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis","volume":"40","author":"Borthwick","year":"2003","journal-title":"J Med Genet."},{"key":"B15","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1179\/146532805X58175","article-title":"Marble brain disease in two Saudi Arabian siblings","volume":"25","author":"Ohlsson","year":"2005","journal-title":"Ann Trop Paediatr."},{"key":"B16","doi-asserted-by":"publisher","first-page":"957","DOI":"10.1007\/s004310050751","article-title":"Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome","volume":"156","author":"Ismail","year":"1997","journal-title":"Eur J Pediatr."},{"key":"B17","doi-asserted-by":"publisher","first-page":"930","DOI":"10.1017\/S0022215100131706","article-title":"Hearing impairment in association with distal renal tubular acidosis among Saudi children","volume":"109","author":"Zakzouk","year":"1995","journal-title":"J Laryngol Otol."},{"key":"B18","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1007\/s00467-005-2125-0","article-title":"Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome","volume":"21","author":"Lotan","year":"2006","journal-title":"Pediatr Nephrol."},{"key":"B19","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1177\/000992288802700209","article-title":"Severe obstructive sleep apnea in a child with osteopetrosis","volume":"27","author":"Carter","year":"1988","journal-title":"Clin Pediatr."},{"key":"B20","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1001\/archotol.124.6.689","article-title":"Malignant infantile osteopetrosis: otolaryngological complications and management","volume":"124","author":"Stocks","year":"1998","journal-title":"Arch Otolaryngol Head Neck Surg."},{"key":"B21","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.prrv.2014.11.003","article-title":"Obstructive sleep apnoea in children with craniofacial syndromes","volume":"16","author":"Cielo","year":"2015","journal-title":"Paediatr Respir Rev."},{"key":"B22","doi-asserted-by":"publisher","first-page":"e714","DOI":"10.1542\/peds.2012-1672","article-title":"Diagnosis and management of childhood obstructive sleep apnea syndrome","volume":"130","author":"Marcus","year":"2012","journal-title":"Pediatrics"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fped.2018.00213\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,7,31]],"date-time":"2018-07-31T07:00:42Z","timestamp":1533020442000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fped.2018.00213\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,31]]},"references-count":22,"alternative-id":["10.3389\/fped.2018.00213"],"URL":"https:\/\/doi.org\/10.3389\/fped.2018.00213","relation":{},"ISSN":["2296-2360"],"issn-type":[{"type":"electronic","value":"2296-2360"}],"subject":[],"published":{"date-parts":[[2018,7,31]]},"article-number":"213"}}