{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T07:17:37Z","timestamp":1762845457260,"version":"build-2065373602"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T00:00:00Z","timestamp":1754956800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T00:00:00Z","timestamp":1754956800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["CEN Case Rep"],"DOI":"10.1007\/s13730-025-01025-x","type":"journal-article","created":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T18:20:47Z","timestamp":1755022847000},"page":"809-813","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Hereditary distal renal tubular acidosis with chronic granulomatous disease: a rare coincidence"],"prefix":"10.1007","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5905-0139","authenticated-orcid":false,"given":"Keerthana","family":"Srinivas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4452-0254","authenticated-orcid":false,"given":"Vernika","family":"Tyagi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5847-8312","authenticated-orcid":false,"given":"Akanksha","family":"Mahajan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6922-6548","authenticated-orcid":false,"given":"Mukta","family":"Mantan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,8,12]]},"reference":[{"key":"1025_CR1","doi-asserted-by":"publisher","first-page":"1077120","DOI":"10.3389\/fped.2023.1077120","volume":"11","author":"M Yang","year":"2023","unstructured":"Yang M, Sheng Q, Ge S, Song X, Dong J, Guo C, et al. Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: analysis based on published patients. Front Pediatr. 2023;11:1077120.","journal-title":"Front Pediatr"},{"issue":"1","key":"1025_CR2","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1016\/j.jaci.2017.04.035","volume":"141","author":"BE Marciano","year":"2018","unstructured":"Marciano BE, Zerbe CS, Falcone EL, Ding L, DeRavin SS, Daub J, et al. X-linked carriers of chronic granulomatous disease: illness, lyonization, and stability. J Allergy Clin Immunol. 2018;141(1):365\u201371.","journal-title":"J Allergy Clin Immunol"},{"issue":"4","key":"1025_CR3","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1111\/j.1600-0609.2011.01739.x","volume":"88","author":"NA Fawaz","year":"2012","unstructured":"Fawaz NA, Beshlawi IO, Al Zadjali S, Al Ghaithi HK, Elnaggari MA, Elnour I, et al. dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state. Eur J Haematol. 2012;88(4):350\u20135.","journal-title":"Eur J Haematol"},{"key":"1025_CR4","unstructured":"VCV000017771.30 - ClinVar - NCBI [Internet]. [cited 2025 Jun 1]. Available from: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/17771\/"},{"issue":"2","key":"1025_CR5","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1128\/CMR.18.2.383-416.2005","volume":"18","author":"AC Cheng","year":"2005","unstructured":"Cheng AC, Currie BJ. Melioidosis: epidemiology, pathophysiology, and management. Clin Microbiol Rev. 2005;18(2):383\u2013416.","journal-title":"Clin Microbiol Rev"},{"key":"1025_CR6","unstructured":"Leiding JW, Holland SM. Chronic Granulomatous Disease. 2012 Aug 9 [Updated 2022 Apr 21]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132024. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK99496"},{"issue":"3","key":"1025_CR7","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1007\/s00431-005-0022-y","volume":"165","author":"R Renella","year":"2006","unstructured":"Renella R, Perez JM, Chollet-Martin S, Sarnacki S, Fischer A, Blanche S, et al. Burkholderia pseudomallei infection in chronic granulomatous disease. Eur J Pediatr. 2006;165(3):175\u20137.","journal-title":"Eur J Pediatr"},{"issue":"Suppl 1","key":"1025_CR8","doi-asserted-by":"publisher","first-page":"S6","DOI":"10.1093\/jpids\/piy007","volume":"7","author":"JE Yu","year":"2018","unstructured":"Yu JE, Azar AE, Chong HJ, Jongco III AM, Prince BT. Considerations in the diagnosis of chronic granulomatous disease. J Pediatric Infect Dis Soc. 2018;7(Suppl 1):S6.","journal-title":"J Pediatric Infect Dis Soc"},{"issue":"4","key":"1025_CR9","doi-asserted-by":"publisher","first-page":"372","DOI":"10.1016\/j.aller.2019.03.005","volume":"47","author":"CF Pozo-Beltr\u00e1n","year":"2019","unstructured":"Pozo-Beltr\u00e1n CF, Su\u00e1rez-Guti\u00e9rrez MA, Yamazaki-Nakashimada MA, Medina-Vera I, Saracho-Weber F, Mac\u00edas-Robles AP, et al. B subset cells in patients with chronic granulomatous disease in a Mexican population. Allergol Immunopathol (Madr). 2019;47(4):372\u20137.","journal-title":"Allergol Immunopathol (Madr)"},{"issue":"1","key":"1025_CR10","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1186\/s13023-020-1312-1","volume":"15","author":"A Cho","year":"2020","unstructured":"Cho A, Lima de Carvalho JR, Tanaka AJ, Jauregui R, Levi SR, Bassuk AG, et al. Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results. Orphanet J Rare Dis. 2020;15(1):32.","journal-title":"Orphanet J Rare Dis"}],"container-title":["CEN Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-025-01025-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13730-025-01025-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-025-01025-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T07:12:50Z","timestamp":1762845170000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13730-025-01025-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,12]]},"references-count":10,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["1025"],"URL":"https:\/\/doi.org\/10.1007\/s13730-025-01025-x","relation":{},"ISSN":["2192-4449"],"issn-type":[{"type":"electronic","value":"2192-4449"}],"subject":[],"published":{"date-parts":[[2025,8,12]]},"assertion":[{"value":"30 April 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 July 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 August 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no conflicts of interest relevant to this work.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This article does not contain any studies with human participants or animals performed by any of the authors.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was taken from the child\u2019s parents to report this case.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}