{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T00:24:00Z","timestamp":1762475040194,"version":"build-2065373602"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,4,21]],"date-time":"2019-04-21T00:00:00Z","timestamp":1555804800000},"content-version":"vor","delay-in-days":110,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:p>\n                    Lysosomal storage disorders (LSDs) collectively constitute a significant public health burden in developing countries. Commoner LSDs include Gaucher, Fabry, and Niemann\u2010Pick disease (NPD), but many cases remain undiagnosed. With the high incidence of consanguineous marriages, South East Asian countries are expected to have high prevalence of these LSDs. Here we report 4 cases of NPD type A\/B in 3 families presenting with hepatosplenomegaly and cytopenias including one family with two sibs having hypertension and mitral valve prolapse. The diagnosis of NPD was proven by mutation analysis with identification of novel mutations, including a novel 4\u2009bp insertion mutation (C&gt;CCTGG) in exon 2 of the\n                    <jats:italic>SMPD1<\/jats:italic>\n                    gene. We also had two cases of NPD type C, confirmed on mutation analysis.\n                  <\/jats:p>","DOI":"10.1155\/2019\/3108093","type":"journal-article","created":{"date-parts":[[2019,4,21]],"date-time":"2019-04-21T19:30:50Z","timestamp":1555875050000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Niemann\u2010Pick Disease: An Underdiagnosed Lysosomal Storage Disorder"],"prefix":"10.1155","volume":"2019","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7375-9892","authenticated-orcid":false,"given":"Inusha","family":"Panigrahi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manoj","family":"Dhanorkar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renu","family":"Suthar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chanchal","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mullai","family":"Baalaaji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Babu Ram","family":"Thapa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5662-649X","authenticated-orcid":false,"given":"Jasvinder","family":"Kalra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,4,21]]},"reference":[{"key":"e_1_2_6_1_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4020-2231-9_4"},{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2013_244"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.155"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-019-0759-1"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.3.249"},{"volume-title":"Nelson Textbook of Pediatrics","year":"2015","author":"Kliegman R. 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