Publicacións (43) Publicacións de Javier Adolfo de las Heras Montero

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

  2. Limitación a la elevación de hombros como forma de presentación de mucopolisacaridosis: a propósito de un caso

    Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 124, pp. 100-100

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. Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

    Journal of Pediatrics, Vol. 239, pp. 231-234.e2

  6. 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. 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. Dieta en los trastornos del ciclo de la urea

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

  3. 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

  4. 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