Lipodistrofia Parcial Familiar tipo 2: a propósito de un caso

by David Araújo Vilar, Antía Fernández Pombo
Published 2021-03-01

Abordaje y tratamiento nutricional precoz en una vía rápida oncológica de cabeza y cuello: ¿Qué aportamos los Dietistas-Nutricionistas?

by María González Rodríguez, Rocío Villar Taibo, Antía Fernández Pombo, Mildred Alicia Sifontes Dubón, Soraya Ferreiro Fariña, Miguel Ángel Martínez Olmos
Published 2020-11-01

Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene

by David Araújo-Vilar, Sofía Sánchez-Iglesias, Ana I. Castro, Silvia Cobelo-Gómez, Álvaro Hermida-Ameijeiras, Gemma Rodríguez-Carnero, Felipe F. Casanueva, Antía Fernández-Pombo
Published 2021-03-01

Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant

by David Araújo-Vilar, Antía Fernández-Pombo, Berta Victoria-Martínez, Adrián Mosquera-Orgueira, Silvia Cobelo-Gómez, Ana Castro-Pais, Álvaro Hermida-Ameijeiras, Lourdes Loidi, Sofía Sánchez-Iglesias
Published 2021-04-01

Celia’s Encephalopathy (<i>BSCL2</i>-Gene-Related): Current Understanding

by Sofía Sánchez-Iglesias, Antía Fernández-Pombo, Silvia Cobelo-Gómez, Álvaro Hermida-Ameijeiras, Helena Alarcón-Martínez, Rosario Domingo-Jiménez, Alejandro Iván Ruíz Riquelme, Jesús R. Requena, David Araújo-Vilar
Published 2021-04-01

Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation

by Antía Fernández-Pombo, José M. Cameselle-Teijeiro, Jose A. Puñal-Rodríguez, Lourdes Loidi, Roberto Peinó-García, Paloma Cabanas-Rodríguez, Miguel Garrido-Pumar, Sandra Baleato-González, Enrique Flores-Ríos, David Araújo-Vilar
Published 2019-01-01

LipoDDx: a mobile application for identification of rare lipodystrophy syndromes

by David Araújo-Vilar, Antía Fernández-Pombo, Gemma Rodríguez-Carnero, Miguel Ángel Martínez-Olmos, Ana Cantón, Rocío Villar-Taibo, Álvaro Hermida-Ameijeiras, Alicia Santamaría-Nieto, Carmen Díaz-Ortega, Carmen Martínez-Rey, Antonio Antela, Elena Losada, Andrés E. Muy-Pérez, Blanca González-Méndez, Sofía Sánchez-Iglesias
Published 2020-04-01