Pilar Guatibonza Moreno, Luba M Pardo, Catarina Pereira, Sabine Schroeder, Deepthi Vagiri, Ligia S Almeida, Carlos Juaristi, Heba Hosny, Clarice C Y Loh, Anika Leubauer, Galina Torres Morales, Sebastian Oppermann, Marius-Ionuț Iurașcu, Steffen Fischer, Tara-Marisa Steinicke, Nikenza Viceconte, Claudia Cozma, Krishna Kumar Kandaswamy, Jorge Pinto Basto, Tobias Böttcher, Peter Bauer, Aida Bertoli-Avella
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 laboratory were analyzed. Patients' clinical data were dissected using Human Phenotype Ontology (HPO) terms, and genotype-phenotype analysis was performed...
October 2023: European Journal of Human Genetics: EJHG