Publications by the researcher in collaboration with Alvaro Hermida Ameijeiras (8)

2023

  1. 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

  2. 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

  1. Celia’s encephalopathy (Bscl2-gene-related): Current understanding

    Journal of Clinical Medicine, Vol. 10, Núm. 7

  2. Familial partial lipodystrophy syndromes

    Presse Medicale

  3. Lipodistrofia Parcial Familiar tipo 2: a propósito de un caso

    Galicia Clínica, Vol. 82, Núm. 1, pp. 33-35

  4. Variable expressivity and allelic heterogeneity in type 2 familial partial lipodystrophy: The p.(thr528met) lmna variant

    Journal of Clinical Medicine, Vol. 10, Núm. 7

  5. 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

  1. LipoDDx: A mobile application for identification of rare lipodystrophy syndromes

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1