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of 2
pro vyhledávání: '"Antonella Bastone"'
Autor:
Susana Navarro, Oscar Quintana-Bustamante, Rebeca Sanchez-Dominguez, Sergio Lopez-Manzaneda, Isabel Ojeda-Perez, Aida Garcia-Torralba, Omaira Alberquilla, Kenneth Law, Brian C. Beard, Antonella Bastone, Michael Rothe, Mariela Villanueva, Juan C. Ramirez, Sara Fañanas-Baquero, Virginia Nieto-Romero, Andrea Molinos-Vicente, Sonia Gutierrez, Eileen Nicoletti, María García-Bravo, Juan A. Bueren, Jonathan D. Schwartz, Jose-Carlos Segovia
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 22, Iss , Pp 350-359 (2021)
Pyruvate kinase deficiency (PKD) is a rare autosomal recessive disorder caused by mutations in the PKLR gene. PKD is characterized by non-spherocytic hemolytic anemia of variable severity and may be fatal in some cases during early childhood. Althoug
Externí odkaz:
https://doaj.org/article/520b1bb80d5c442ebaab57f472bd9735
Autor:
Aldo Ravaglia, Antonella Bastone
Publikováno v:
Medico e Bambino. 40:263-268