Publicacións en colaboración con investigadores/as de Maastricht University (8)

2024

  1. Brain function in classic galactosemia, a galactosemia network (GalNet) members review

    Frontiers in Genetics

2022

  1. Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 80, Núm. 12, pp. 1115-1126

  2. Galactose epimerase deficiency: lessons from the GalNet registry

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 331

2021

  1. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

  2. Galactokinase deficiency: lessons from the GalNet registry

    Genetics in Medicine, Vol. 23, Núm. 1, pp. 202-210

2020

  1. Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

    Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 726-736

  2. The impact of gender, puberty, and pregnancy in patients with POLG disease

    Annals of Clinical and Translational Neurology, Vol. 7, Núm. 10, pp. 2019-2025

2019

  1. The natural history of classic galactosemia: Lessons from the GalNet registry

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1