Publicaciones en las que colabora con LUIS JOSE ALDAMIZ-ECHEVARRIA AZUARA (119)

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. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 2, pp. 401-414

  3. Treatment adherence in tyrosinemia type 1 patients

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

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

2019

  1. 8.4 Acidurias orgánicas y defectos del ciclo de la urea.

    Manual de pediatría (Ergon), pp. 675-680

  2. A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 3, pp. 407-413

  3. Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria

    European Journal of Pediatrics

  4. Betaine anhydrous in homocystinuria: Results from the RoCH registry

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

  5. Dieta en los trastornos del ciclo de la urea

    Nutrición y dietética clínica (Elsevier), pp. 387-392

  6. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

    Medicine (United States), Vol. 98, Núm. 39

  7. Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

    Journal of pharmaceutical and biomedical analysis, Vol. 176, pp. 112798

  8. Reply-Letter to the Editor-Is liver steatosis diagnostic of non-alcoholic fatty liver disease in patients with hereditary fructose intolerance?

    Clinical Nutrition