Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sara Bernal Noguera"'
Autor:
Salvador Payán‐Pernía, Ángel F. Remacha Sevilla, Esther Rodríguez, Marta Serra Ferrer, Sara Bernal Noguera
Publikováno v:
Hemoglobin. 44:294-296
Here we report a Spanish family in which two members, mother and daughter, present with a phenotype of mild non transfusion-dependent thalassemia (NTDT) due to compound heterozygosity for δβ-thalassemia (δβ-thal) and the α gene triplication αα
Autor:
Laura Fionda, Sara Bernal Noguera, Janina Turon-Sans, Eduard Gallardo, Elena Cortés-Vicente, Maria Angeles López-Pérez, Ricard Rojas-García, Pablo Fuentes Prior
Publikováno v:
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Fundacion Sancho el Sabio Fundazioa (FSS)
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Fundacion Sancho el Sabio Fundazioa (FSS)
We report the case of a patient with a clinical phenotype characterized by distal lower limb weakness and pes cavus. The electrophysiological study showed slightly reduced or normal amplitude of motor potentials, a decremental response to repetitive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ceead4eda6c1a237e5988bc1bd3939a
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4164
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4164