Publicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria Biobizkaia (32)

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. Spatial metabolomics and its application in the liver

    Hepatology, Vol. 79, Núm. 5, pp. 1158-1179

  4. 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

  2. Hepatic levels of S-adenosylmethionine regulate the adaptive response to fasting

    Cell Metabolism, Vol. 35, Núm. 8, pp. 1373-1389.e8

2022

  1. Inhibition of ATG3 ameliorates liver steatosis by increasing mitochondrial function

    Journal of Hepatology, Vol. 76, Núm. 1, pp. 11-24

  2. Methionine Cycle Rewiring by Targeting miR-873-5p Modulates Ammonia Metabolism to Protect the Liver from Acetaminophen

    Antioxidants, Vol. 11, Núm. 5

  3. Methionine adenosyltransferase 1a antisense oligonucleotides activate the liver-brown adipose tissue axis preventing obesity and associated hepatosteatosis

    Nature Communications, Vol. 13, Núm. 1

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

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

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

    Frontiers in Endocrinology

  6. Vitamin C and folate status in hereditary fructose intolerance

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

2021

  1. E2F1 and E2F2-mediated repression of CPT2 establishes a lipid-rich tumor-promoting environment

    Cancer Research, Vol. 81, Núm. 11, pp. 2874-2887

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

    Children, Vol. 8, Núm. 11

  3. Leigh syndrome associated with TRMU gene mutations

    Molecular Genetics and Metabolism Reports, Vol. 26

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

    Molecular Genetics and Metabolism Reports, Vol. 26

  5. Magnesium accumulation upon cyclin M4 silencing activates microsomal triglyceride transfer protein improving NASH

    Journal of Hepatology, Vol. 75, Núm. 1, pp. 34-45

  6. Neddylation inhibition ameliorates steatosis in NAFLD by boosting hepatic fatty acid oxidation via the DEPTOR-mTOR axis

    Molecular Metabolism, Vol. 53

  7. The L-α-Lysophosphatidylinositol/G Protein–Coupled Receptor 55 System Induces the Development of Nonalcoholic Steatosis and Steatohepatitis

    Hepatology, Vol. 73, Núm. 2, pp. 606-624

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

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