Publicacións nas que colabora con Luis Aldamiz-Echevarria Azuara (9)

2018

  1. Carbohydrate status in patients with phenylketonuria

    Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1

  2. New CTSA mutation in early infantile galactosialidosis

    Pediatrics International

2017

  1. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

    Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360

2016

  1. Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

    Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1

  2. Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria

    Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744

2015

  1. Utilidad de los marcadores de remodelado óseo en la detección de enfermedad mineral ósea en pacientes con fenilcetonuria

    Medicina Clinica, Vol. 144, Núm. 5, pp. 193-197

  2. Vitamin and mineral status in patients with hyperphenylalaninemia

    Molecular Genetics and Metabolism, Vol. 115, Núm. 4, pp. 145-150

2014

  1. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

    Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1

2013

  1. Risk factors for developing mineral bone disease in phenylketonuric patients

    Molecular Genetics and Metabolism, Vol. 108, Núm. 3, pp. 149-154