Article
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.
European journal of human genetics : EJHG - 1 Oct 2023
Guatibonza Moreno Pilar, Pardo Luba M, Pereira Catarina, Schroeder Sabine, Vagiri Deepthi, Almeida Ligia S, Juaristi Carlos, Hosny Heba, Loh Clarice C Y, Leubauer Anika, Torres Morales Galina, Oppermann Sebastian, Iurașcu Marius-Ionuț, Fischer Steffen, Steinicke Tara-Marisa, Viceconte Nikenza, Cozma Claudia, Kandaswamy Krishna Kumar, Pinto Basto Jorge, Böttcher Tobias, Bauer Peter, Bertoli-Avella Aida
Abstract excerpt
Niemann-Pick type C1 disease (NPC1 [OMIM 257220]) is a rare and severe autosomal recessive disorder, characterized by a multitude of neurovisceral clinical manifestations and a fatal outcome with no effective treatment to date. Aiming to gain insights into the genetic aspects of the disease, clinical, genetic, and biomarker PPCS data from 602 patients referred from 47 countries and diagnosed with NPC1 in our...
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