Publicaciones (119) Publicaciones de LUIS JOSE ALDAMIZ-ECHEVARRIA AZUARA

2020

  1. Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1

  2. Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia

    Mitochondrion, Vol. 55, pp. 78-84

  3. Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

    Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 671-693

  4. Cribado selectivo de la hipofosfatasia en la población pediátrica del País Vasco

    Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 121, pp. 14-17

  5. Implementation of an affordable method for MPS diagnosis from urine screening to enzymatic confirmation: Results of a pilot study in Morocco

    Clinical Laboratory, Vol. 66, Núm. 3, pp. 391-399

  6. New variants in Spanish Niemann–Pick type c disease patients

    Molecular Biology Reports, Vol. 47, Núm. 3, pp. 2085-2095

  7. Non-alcoholic fatty liver in hereditary fructose intolerance

    Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459

  8. Oocytes of women who are obese or overweight have lower levels of n-3 polyunsaturated fatty acids compared with oocytes of women with normal weight

    Fertility and Sterility, Vol. 113, Núm. 1, pp. 53-61

  9. Usefulness of urinary glycosaminoglycans assay for a mucopolysaccharidosis-specific screening

    Pediatrics International, Vol. 62, Núm. 9, pp. 1077-1085