Publicaciones en colaboración con investigadores/as de Hospital Universitario de Cruces (25)

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

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

    Frontiers in Endocrinology

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

    Molecular Genetics and Metabolism Reports, Vol. 26

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

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

  4. 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

2019

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

    European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911

  2. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

    Molecular Genetics and Metabolism, Vol. 127, Núm. 1, pp. 1-11

2017

  1. 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

  2. Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

    Scientific Reports, Vol. 7, Núm. 1

2015

  1. Cholestane-3β,5α,6β-triol: High levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

    Journal of Lipid Research, Vol. 56, Núm. 10, pp. 1926-1935

  2. Vitamin D and type 2 diabetes mellitus, are they really related?

    Anales de Pediatria

2013

  1. 25-hydroxyvitamin D in obese youth across the spectrum of glucose tolerance from normal to prediabetes to type 2 diabetes

    Diabetes Care, Vol. 36, Núm. 7, pp. 2048-2053

  2. Indices of insulin secretion during a liquid mixed-meal test in obese youth with diabetes

    Journal of Pediatrics, Vol. 162, Núm. 5, pp. 924-929

2012

  1. 25-Hydroxyvitamin D concentrations and in vivo insulin sensitivity and β-cell function relative to insulin sensitivity in black and white youth

    Diabetes Care, Vol. 35, Núm. 3, pp. 627-633

  2. Expression of proinflammatory factors in renal cortex induced by methylmalonic acid

    Renal Failure, Vol. 34, Núm. 7, pp. 885-891