Publications in collaboration with researchers from Hospital Universitario Príncipe de Asturias (39)

2024

  1. Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1

    Pediatric Dermatology

  2. Myhre syndrome: case report

    Medicina Clinica

2023

  1. Werner syndrome as a crossroads between lipodystrophy, escleroderma-like changes and torpid ulcers in lower limbs

    Endocrinologia, Diabetes y Nutricion, Vol. 70, Núm. 5, pp. 362-364

2022

  1. Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

2020

  1. Hereditary leiomyomatosis and renal cell cancer syndrome in spain: Clinical and genetic characterization

    Cancers, Vol. 12, Núm. 11, pp. 1-16

  2. Novel therapeutics in hypertriglyceridaemia and chylomicronaemia

    Medicina Clinica, Vol. 154, Núm. 8, pp. 308-314

2019

  1. Proprotein convertase subtilisin/kexin type 9 antibody and statin-associated autoimmune myopathy

    Annals of Internal Medicine

2018

  1. Primary constitutional MLH1 epimutations: a focal epigenetic event

    British Journal of Cancer, Vol. 119, Núm. 8, pp. 978-987

  2. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2017

  1. Cáncer hereditario y consejo genético oncológico

    Medicine (Spain), Vol. 12, Núm. 34, pp. 2047-2059

  2. Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3

    Human Molecular Genetics, Vol. 26, Núm. 20, pp. 3883-3894

2016

  1. Enfermedades por almacenamiento de glucógeno y otros trastornos hereditarios del metabolismo de los hidratos de carbono

    Medicine (Spain), Vol. 12, Núm. 19, pp. 1082-1093

  2. Enfermedades por depósito lisosomal

    Medicine (Spain), Vol. 12, Núm. 19, pp. 1072-1081

  3. Mujer joven con problemas neurológicos y xantomas

    Medicine (Spain), Vol. 12, Núm. 19, pp. 1126.-1126.

  4. Protocolo diagnóstico de la hiperCKemia persistente

    Medicine (Spain), Vol. 12, Núm. 19, pp. 1116-1120

  5. Protocolo diagnóstico de las dislipidemias

    Medicine (Spain), Vol. 12, Núm. 19, pp. 1107-1110

  6. Protocolo diagnóstico de los errores congénitos del metabolismo en el adulto

    Medicine (Spain), Vol. 12, Núm. 19, pp. 1121-1125

  7. Trastornos del metabolismo del hierro y del cobre. Hemocromatosis y enfermedad de Wilson

    Medicine (Spain), Vol. 12, Núm. 19, pp. 1094-1106

  8. Trastornos del metabolismo lipídico

    Medicine (Spain), Vol. 12, Núm. 19, pp. 1059-1071

2015

  1. Hereditary apolipoprotein AI-associated renal amyloidosis: A diagnostic challenge

    Nefrologia, Vol. 35, Núm. 3, pp. 322-327