Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.

doi:10.1016/j.ijdevneu.2017.11.007

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Article

Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 May 2018

Hammerschmidt Tatiane Grazieli, de Oliveira Schmitt Ribas Graziela, Saraiva-Pereira Maria Luiza, Bonatto Márcia Polese, Kessler Rejane Gus, Souza Fernanda Timm Seabra, Trapp Franciele, Michelin-Tirelli Kristiane, Burin Maira Graeff, Giugliani Roberto, Vargas Carmen Regla

Abstract excerpt

BACKGROUND: Niemann-Pick type C (NP-C), one of 50 inherited lysosomal storage disorders, is caused by NPC protein impairment that leads to unesterified cholesterol accumulation in late endosomal/lysosomal compartments. The clinical manifestations of NP-C include hepatosplenomegaly, neurological and psychiatric symptoms. Current diagnosis for NP-C is based on observation of the accumulated cholesterol in...

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PMID: 29197565
DOI: 10.1016/j.ijdevneu.2017.11.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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