TRASTORNOS CONGÉNITOS DEL METABOLISMO
Hospital de Cruces
Barakaldo, EspañaPublikationen in Zusammenarbeit mit Forschern von Hospital de Cruces (35)
2024
-
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Neuromuscular Disorders, Vol. 34, pp. 1-8
-
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
Scientific Reports, Vol. 14, Núm. 1
2023
2022
-
Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry
Frontiers in Immunology, Vol. 13
-
Pearls & Oy-sters: Challenges and Controversies in Wilson Disease
Neurology, Vol. 99, Núm. 6, pp. 251-255
-
Understanding gut-liver axis nitrogen metabolism in Fatty Liver Disease
Frontiers in Endocrinology
-
Vitamin C and folate status in hereditary fructose intolerance
European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739
2021
-
El cribado metabólico del recién nacido como modelo asistencial de la medicina de precisión. Perspectiva desde la Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM)
Revista espanola de salud publica, Vol. 95
-
Importance of timely treatment initiation in infantile-onset pompe disease, a single-centre experience
Children, Vol. 8, Núm. 11
-
MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution
Molecular Genetics and Metabolism Reports, Vol. 26
-
Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance
Journal of Clinical Medicine, Vol. 10, Núm. 13
-
Urine phenylacetylglutamine determination in patients with hyperphenylalaninemia
Journal of Clinical Medicine, Vol. 10, Núm. 16
2020
-
Brain circuit alterations and cognitive disability in late-onset cobalamin d disorder
Journal of Clinical Medicine, Vol. 9, Núm. 4
-
Canavan gaixotasuna (aspartoazilasaren gabezia): Euskal Herriko lehen kasuaren eta Europako mutazio berri baten aurkezpena
Osagaiz: osasun-zientzien aldizkaria, Vol. 4, Núm. 2, pp. 71-78
2019
-
Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911
-
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
2018
-
Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature
Molecular Genetics and Metabolism, Vol. 124, Núm. 3, pp. 216-227
-
Reply
Revista de Neurologia
2017
-
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
-
Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals
Molecular Genetics and Metabolism Reports, Vol. 10, pp. 92-95