{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T16:05:20Z","timestamp":1794067520396,"version":"4.8.0"},"reference-count":21,"publisher":"Walter de Gruyter GmbH","issue":"5","license":[{"start":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T00:00:00Z","timestamp":1736467200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0530_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Niemann\u2013Pick type C (NPC) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic pathogenic variants in the <jats:italic>NPC1<\/jats:italic> or <jats:italic>NPC2<\/jats:italic> genes, leading to lysosomal lipid accumulation. NPC has an incidence of 1 in 100,000 live births and presents with a wide range of symptoms affecting visceral organs and the central nervous system. We aim to describe the diverse clinical presentations of NPC through case studies.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0530_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We report seven NPC patients from five families, showcasing the variability in clinical manifestations. The most common finding was hepatosplenomegaly (70\u202f%), followed by prolonged jaundice (57\u202f%) and neonatal cholestasis. Pulmonary alveolar proteinosis (PAP) was observed in three patients with biallelic pathogenic variants in the <jats:italic>NPC2<\/jats:italic> gene. Neurological symptoms, including vertical gaze palsy and epilepsy, were noted in patients with juvenile onset form. Genetic analyses identified a novel homozygous c.315del (p.Thr106ProfsTer5) variant in the <jats:italic>NPC2<\/jats:italic> gene, associated with early infantile onset.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0530_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>NPC presents with diverse clinical findings across ages. Early hepatic symptoms in infants and neuropsychiatric issues in older patients warrant a high index of suspicion for NPC in such cases. A multidisciplinary approach is crucial for patient management, and further research is needed to clarify genotype\u2013phenotype relationships in NPC.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0530","type":"journal-article","created":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T03:00:26Z","timestamp":1736478026000},"page":"539-545","source":"Crossref","is-referenced-by-count":3,"title":["Clinical manifestations and molecular genetics of seven patients with Niemann\u2013Pick type-C: a case series with a novel variant"],"prefix":"10.1515","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-7887-1444","authenticated-orcid":false,"given":"Cemre","family":"Kara","sequence":"first","affiliation":[{"name":"Department of Pediatrics , Ankara University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7238-2894","authenticated-orcid":false,"given":"Engin","family":"K\u00f6se","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Ankara University Rare Diseases Application and Research Center , Ankara University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5880-1113","authenticated-orcid":false,"given":"Fatma Tuba","family":"Emino\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Ankara University Rare Diseases Application and Research Center , Ankara University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2025,1,10]]},"reference":[{"key":"2025082013043675374_j_jpem-2024-0530_ref_001","doi-asserted-by":"crossref","unstructured":"Geberhiwot, T, Wasserstein, M, Wanninayake, S, Bolton, SC, Dardis, A, Lehman, A, et al.. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A\/B). Orphanet J Rare Dis 2023;18:85. https:\/\/doi.org\/10.1186\/s13023-023-02686-6.","DOI":"10.1186\/s13023-023-02686-6"},{"key":"2025082013043675374_j_jpem-2024-0530_ref_002","doi-asserted-by":"crossref","unstructured":"Vanier, MT. Niemann-Pick disease type C. Orphanet J Rare Dis 2010;5:16. https:\/\/doi.org\/10.1186\/1750-1172-5-16.","DOI":"10.1186\/1750-1172-5-16"},{"key":"2025082013043675374_j_jpem-2024-0530_ref_003","doi-asserted-by":"crossref","unstructured":"Cheema, HA, Saeed, A, Anjum, MN, Waheed, N. Phenotypic diversity of Niemann-Pick disease type C in Pakistani children. 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