Publicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria Biobizkaia (20)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  2. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

    Scientific Reports, Vol. 14, Núm. 1

  3. Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

2023

  1. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

2022

  1. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

  2. Understanding gut-liver axis nitrogen metabolism in Fatty Liver Disease

    Frontiers in Endocrinology

  3. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

2021

  1. Importance of timely treatment initiation in infantile-onset pompe disease, a single-centre experience

    Children, Vol. 8, Núm. 11

  2. Leigh syndrome associated with TRMU gene mutations

    Molecular Genetics and Metabolism Reports, Vol. 26

  3. MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution

    Molecular Genetics and Metabolism Reports, Vol. 26

  4. Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance

    Journal of Clinical Medicine, Vol. 10, Núm. 13

  5. Urine phenylacetylglutamine determination in patients with hyperphenylalaninemia

    Journal of Clinical Medicine, Vol. 10, Núm. 16

2020

  1. Brain circuit alterations and cognitive disability in late-onset cobalamin d disorder

    Journal of Clinical Medicine, Vol. 9, Núm. 4

  2. Non-alcoholic fatty liver in hereditary fructose intolerance

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

2019

  1. 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

2018

  1. Frontoparietal subdural hematoma in a child with mental regression

    JAMA Neurology

2017

  1. A morphological method for ammonia detection in liver

    PLoS ONE, Vol. 12, Núm. 3

  2. An update on the use of benzoate, phenylacetate and phenylbutyrate ammonia scavengers for interrogating and modifying liver nitrogen metabolism and its implications in urea cycle disorders and liver disease

    Expert Opinion on Drug Metabolism and Toxicology, Vol. 13, Núm. 4, pp. 439-448

2015

  1. Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria

    Nephrology, Vol. 20, Núm. 8, pp. 576-579

2009

  1. MODY2 natural evolution and treatment

    HORMONE RESEARCH