{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,10,30]],"date-time":"2024-10-30T04:10:59Z","timestamp":1730261459793,"version":"3.28.0"},"reference-count":3,"publisher":"Scientific Scholar","content-domain":{"domain":["indianjnephrol.org"],"crossmark-restriction":true},"short-container-title":["Indian J Nephrol"],"DOI":"10.25259\/ijn_308_2024","type":"journal-article","created":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T10:08:05Z","timestamp":1723198085000},"page":"678-678","update-policy":"http:\/\/dx.doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["From Rarity to Reality: Nivelon-Nivelon-Mabille Syndrome Presenting with Renal Tubular Acidosis"],"prefix":"10.25259","volume":"34","author":[{"given":"Abhishek","family":"Abhinay","sequence":"first","affiliation":[{"name":"Division of Pediatric Nephrology, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satyabrata","family":"Panda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ankur","family":"Singh","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nitish","family":"Kumar","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2024,8,9]]},"reference":[{"key":"10.25259\/IJN_308_2024\/ref-1","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1097\/00019605-199210000-00005","article-title":"New autosomal recessive chondrodysplasia\u2014pseudohermaphrodism syndrome","volume":"1","author":"Nivelon","year":"1992","journal-title":"Clin Dysmorphol"},{"key":"10.25259\/IJN_308_2024\/ref-2","doi-asserted-by":"publisher","first-page":"1053","DOI":"10.1002\/ajmg.a.61133","article-title":"Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia","volume":"179","author":"Abdel-Salam","year":"2019","journal-title":"Am J Med Genet A"},{"key":"10.25259\/IJN_308_2024\/ref-3","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1002\/ajmg.a.63000","article-title":"Muscle spasms as presenting feature of nivelon-nivelon-mabile syndrome","volume":"191","author":"Saini","year":"2023","journal-title":"Am J Med Genet A"}],"container-title":["Indian Journal of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/indianjnephrol.org\/from-rarity-to-reality-nivelon-nivelon-mabille-syndrome-presenting-with-renal-tubular-acidosis\/","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/indianjnephrol.org\/from-rarity-to-reality-nivelon-nivelon-mabille-syndrome-presenting-with-renal-tubular-acidosis\/","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T05:35:00Z","timestamp":1730180100000},"score":1,"resource":{"primary":{"URL":"https:\/\/indianjnephrol.org\/from-rarity-to-reality-nivelon-nivelon-mabille-syndrome-presenting-with-renal-tubular-acidosis\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,9]]},"references-count":3,"alternative-id":["10.25259\/IJN_308_2024"],"URL":"https:\/\/doi.org\/10.25259\/ijn_308_2024","relation":{},"ISSN":["1998-3662","0971-4065"],"issn-type":[{"type":"electronic","value":"1998-3662"},{"type":"print","value":"0971-4065"}],"subject":[],"published":{"date-parts":[[2024,8,9]]},"article-number":"678"}}