Sitosterolémia - uma causa rara de uma situação comum

Autor: Garcia, A.M., Padeira, G., Conde, M., Carvalho, R., João, A., Gomes, I., Bosquet, Lucas G., Correia, C., Valongo, C., Dias, A., Medeiros, A., Bourbon, Mafalda, Ferreira, A.C.

Prémio de Melhor Poster. Introdução: A Sitosterolémia (OMIM 210250) é uma doença autossómica recessiva rara do metabolismo dos esteróis vegetais. É causada por mutações nos genes ABCG5 ou ABCG8 (2p21) que codificam as proteínas esterolina

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2016::e0b932ec75919e3237ee1b51f2b1f36c
https://hdl.handle.net/10400.18/4003

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Metabolic Myopathies: Experience of a Reference Center of Inherited Metabolic Diseases.

Autor: Rebelo M; Centro Hospitalar de Lisboa Central Pediatric Neurology Unit, Pediatrics Department, Hospital Dona Estefânia Lisbon Portugal., Pires M; Centro Hospitalar de Lisboa Central Pediatrics Department, Hospital Dona Estefânia Lisbon Portugal., Azurara L; Centro Hospitalar de Lisboa Central Pediatric Neurology Unit, Pediatrics Department, Hospital Dona Estefânia Lisbon Portugal., Câmara L; Centro Hospitalar de Lisboa Central Reference Centre for Inherited Metabolic Diseases; Medicine Department Lisbon Portugal., Pereira M; Centro Hospitalar de Lisboa Central Reference Centre for Inherited Metabolic Diseases; Medicine Department Lisbon Portugal., Ribeirinho A; Centro Hospitalar de Lisboa Central Reference Centre for Inherited Metabolic Diseases; Medicine Department Lisbon Portugal., Padeira G; Centro Hospitalar de Lisboa Central Reference Centre for Inherited Metabolic Diseases; Pediatrics Department Lisbon Portugal., Silva PG; Centro Hospitalar de Lisboa Central Reference Centre for Inherited Metabolic Diseases; Pediatrics Department Lisbon Portugal., Jacinto S; Centro Hospitalar de Lisboa Central Pediatric Neurology Unit, Pediatrics Department, Hospital Dona Estefânia; Reference Centre for Inherited Metabolic Diseases Lisbon Portugal., Vieira JP; Centro Hospitalar de Lisboa Central Pediatric Neurology Unit, Pediatrics Department, Hospital Dona Estefânia; Reference Centre for Inherited Metabolic Diseases Lisbon Portugal., Ferreira AC; Centro Hospitalar de Lisboa Central Reference Centre for Inherited Metabolic Diseases; Pediatrics Department Lisbon Portugal.

Publikováno v: Endocrine, metabolic & immune disorders drug targets [Endocr Metab Immune Disord Drug Targets] 2023 Oct 18. Date of Electronic Publication: 2023 Oct 18.