Celia's Encephalopathy (

Autor: David Araújo-Vilar, Sofía Sánchez-Iglesias, Jesús R. Requena, Silvia Cobelo-Gómez, Antía Fernández-Pombo, Alejandro Iván Ruíz Riquelme, Rosario Domingo-Jiménez, Álvaro Hermida-Ameijeiras, Alarcón-Martínez H

Publikováno v: Journal of Clinical Medicine
Journal of Clinical Medicine 10(7), 1435 (2021). doi:10.3390/jcm10071435 special issue: "Infrequent Lipodystrophies: Challenges in Pathogenesis, Diagnosis and Treatment"
Minerva: Repositorio Institucional de la Universidad de Santiago de Compostela
Universidad de Santiago de Compostela (USC)
Journal of Clinical Medicine, Vol 10, Iss 1435, p 1435 (2021)
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
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Seipin, encoded by the BSCL2 gene, is a protein that in humans is expressed mainly in the central nervous system. Uniquely, certain variants in BSCL2 can cause both generalized congenital lipodystrophy type 2, upper and/or lower motor neuron diseases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::accd4f7d6fbb13f893cf417d6fa1da16
https://pubmed.ncbi.nlm.nih.gov/33916074