JAVIER ADOLFO
DE LAS HERAS MONTERO
PROFESORADO TITULAR DE UNIVERSIDAD
Publikationen (43) Publikationen von JAVIER ADOLFO DE LAS HERAS MONTERO
2024
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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Neuromuscular Disorders, Vol. 34, pp. 1-8
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Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
Scientific Reports, Vol. 14, Núm. 1
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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease
Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1
2023
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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
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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
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Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Journal of Clinical Medicine, Vol. 11, Núm. 17
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Understanding gut-liver axis nitrogen metabolism in Fatty Liver Disease
Frontiers in Endocrinology
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Vitamin C and folate status in hereditary fructose intolerance
European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739
2021
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Importance of timely treatment initiation in infantile-onset pompe disease, a single-centre experience
Children, Vol. 8, Núm. 11
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Leigh syndrome associated with TRMU gene mutations
Molecular Genetics and Metabolism Reports, Vol. 26
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MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution
Molecular Genetics and Metabolism Reports, Vol. 26
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Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance
Journal of Clinical Medicine, Vol. 10, Núm. 13
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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey
Journal of Pediatrics, Vol. 239, pp. 231-234.e2
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Urine phenylacetylglutamine determination in patients with hyperphenylalaninemia
Journal of Clinical Medicine, Vol. 10, Núm. 16
2020
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Brain circuit alterations and cognitive disability in late-onset cobalamin d disorder
Journal of Clinical Medicine, Vol. 9, Núm. 4
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Non-alcoholic fatty liver in hereditary fructose intolerance
Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459
2019
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Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911
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Dieta en los trastornos del ciclo de la urea
Nutrición y dietética clínica (Elsevier), pp. 387-392
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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
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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