TRASTORNOS CONGÉNITOS DEL METABOLISMO
Hospital Ramón y Cajal
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Ramón y Cajal (10)
2023
2022
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Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry
Frontiers in Immunology, Vol. 13
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Metabolic-associated fatty liver disease: From simple steatosis toward liver cirrhosis and potential complications. Proceedings of the Third Translational Hepatology Meeting, organized by the Spanish Association for the Study of the Liver (AEEH)
Gastroenterologia y Hepatologia, Vol. 45, Núm. 9, pp. 724-734
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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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Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance
Journal of Clinical Medicine, Vol. 10, Núm. 13
2019
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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
2018
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Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa Registry) in Spain: Objectives, methods, and preliminary results
Revista Clinica Espanola, Vol. 218, Núm. 9, pp. 468-476
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Reply
Revista de Neurologia
2017
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Treatment of encephalopathy by means of valproic acid with carglumic acid: Two case reports and a review of the literature
Revista de Neurologia, Vol. 65, Núm. 9, pp. 409-414
2016
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Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso
Medicina Clinica, Vol. 147, Núm. 11, pp. 506.e1-506.e7