Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Fernanda S. Medeiros"'
Autor:
Chong Ae Kim, Carlos Eduardo Steiner, Emília Katiane Embiruçu, Márcia Gonçalves Ribeiro, Charles Marques Lourenço, Ana Carolina Brusius Facchin, Matheus Augusto Araujo Castro, Roberto Giugliani, Sandra Leistner-Segal, Hector P. Quintero Montano, Augusto César Cardoso-dos-Santos, Kristiane Michelin-Tirelli, Maria L. Castro Moreira, Luciana Giugliani, Franciele Barbosa Trapp, Yorran Hardman Araujo Montenegro, Erlane Marques Ribeiro, Maira Graeff Burin, Francyne Kubaski, Carolina Fischinger Moura de Souza, Guilherme Baldo, Fernanda S. Medeiros
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(3)
Mucopolysaccharidosis type IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme N-acetyl-alpha-d-glucosaminidase (NAGLU), caused by biallelic pathogenic variants in the NAGLU gene, which leads to storage of heparan su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7960a9d12faac5c22bf387f545eab821
https://pubmed.ncbi.nlm.nih.gov/34806811
https://pubmed.ncbi.nlm.nih.gov/34806811
Autor:
Jéssica V G F, Batista, Gabriela S, Arcanjo, Thais H C, Batista, Marcondes J, Sobreira, Rodrigo M, Santana, Igor F, Domingos, Betânia L, Hatzlhofer, Diego A, Falcão, Diego A, Pereira-Martins, Jéssica M, Oliveira, Amanda S, Araujo, Luana P M, Laranjeira, Fernanda S, Medeiros, Flávia P, Albuquerque, Dulcinéia M, Albuquerque, Magnun N, Santos, Manuela F, Hazin, Ana C, Dos Anjos, Fernando F, Costa, Aderson S, Araujo, Antonio R, Lucena-Araujo, Marcos A, Bezerra
Publikováno v:
Annals of hematology. 100(4)
Hyperbilirubinemia in patients with sickle cell anemia (SCA) as a result of enhanced erythrocyte destruction, lead to cholelithiasis development in a subset of patients. Evidence suggests that hyperbilirubinemia may be related to genetic variations,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ab5c0c999aaa0fc6412b3440e44768ab
https://pubmed.ncbi.nlm.nih.gov/33523291
https://pubmed.ncbi.nlm.nih.gov/33523291