Publications by the researcher in collaboration with Montserrat Morales Conejo (9)

2024

  1. The burden of disease and quality of life in patients with acute hepatic porphyria: COPHASE study

    Medicina Clinica, Vol. 162, Núm. 3, pp. 103-111

  2. Women with Gaucher Disease

    Biomedicines, Vol. 12, Núm. 3

2023

  1. Diagnosis, evaluation and monitoring of acute hepatic porphyria

    Medicina Clinica

  2. Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria

    International Journal of Molecular Sciences, Vol. 24, Núm. 1

2022

  1. Diagnostic and follow-up protocol for adult patients with neurofibromatosis type 1 in a Spanish reference unit

    Revista Clinica Espanola, Vol. 222, Núm. 8, pp. 486-495

2021

  1. Acute intermittent porphyria, givosiran, and homocysteine

    Journal of Inherited Metabolic Disease

  2. Diagnosis and management of inborn errors of metabolism in adult patients in the emergency department

    Diagnostics, Vol. 11, Núm. 11

  3. High prevalence of insulin resistance in asymptomatic patients with acute intermittent porphyria and liver-targeted insulin as a novel therapeutic approach

    Biomedicines, Vol. 9, Núm. 3, pp. 1-18

  4. Novel molecular targeted therapies for patients with neurofibromatosis type 1 with inoperable plexiform neurofibromas: a comprehensive review

    ESMO open, Vol. 6, Núm. 4, pp. 100223