Publicaciones en las que colabora con David Araujo Vilar (8)
2023
-
The role of phenylalanine levels in the neuropsychological and neuroanatomical status of adult patients with phenylketonuria: The impact of fluctuations
Journal of investigative medicine : the official publication of the American Federation for Clinical Research, Vol. 71, Núm. 2, pp. 149-158
-
The value of waist circumference as a preditor of cardiovascular risk in adult patients with classic phenylketonuria
Medicina Clinica, Vol. 161, Núm. 11, pp. 470-475
2021
-
Celia’s encephalopathy (Bscl2-gene-related): Current understanding
Journal of Clinical Medicine, Vol. 10, Núm. 7
-
Familial partial lipodystrophy syndromes
Presse Medicale
-
Lipodistrofia Parcial Familiar tipo 2: a propósito de un caso
Galicia Clínica, Vol. 82, Núm. 1, pp. 33-35
-
Variable expressivity and allelic heterogeneity in type 2 familial partial lipodystrophy: The p.(thr528met) lmna variant
Journal of Clinical Medicine, Vol. 10, Núm. 7
-
Variable expressivity in type 2 familial partial lipodystrophy related to r482 and n466 variants in the lmna gene
Journal of Clinical Medicine, Vol. 10, Núm. 6, pp. 1-9
2020
-
LipoDDx: A mobile application for identification of rare lipodystrophy syndromes
Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1