Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (14)

2024

  1. A cohort analysis of familial partial lipodystrophy from two Mediterranean countries

    Diabetes, Obesity and Metabolism, Vol. 26, Núm. 11, pp. 4875-4886

  2. Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes

    International Journal of Molecular Sciences, Vol. 25, Núm. 17

2023

  1. Clinical Characterisation and Comorbidities of Acquired Generalised Lipodystrophy: A 14-Year Follow-Up Study

    Journal of Clinical Medicine, Vol. 12, Núm. 23

  2. Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review

    Cells, Vol. 12, Núm. 5

  3. Increased musculature: A warning sign of familial partial lipodystrophy

    Endocrinologia, Diabetes y Nutricion, Vol. 70, Núm. 4, pp. 290-292

  4. Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain

    Frontiers in Endocrinology, Vol. 14

  5. 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

  6. 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

2022

  1. Lipodystrophy-associated progeroid syndromes

    Hormones, Vol. 21, Núm. 4, pp. 555-571

2021

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

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

  2. 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

2018

  1. Bone mineral density in familial partial lipodystrophy

    Clinical Endocrinology, Vol. 88, Núm. 1, pp. 44-50

  2. Inflammatory myopathy in the context of an unusual overlapping laminopathy

    Archives of Endocrinology and Metabolism, Vol. 62, Núm. 3, pp. 376-382

2016

  1. Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome

    Endocrine, Vol. 54, Núm. 2, pp. 411-421