Publicaciones en las que colabora con María Luz Couce Pico (12)
2024
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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
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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Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis
Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 105
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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
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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey
Journal of Pediatrics, Vol. 239, pp. 231-234.e2
2020
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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
2018
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Dislipemias genéticas
Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 135-154
2015
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Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria
Nephrology, Vol. 20, Núm. 8, pp. 576-579
2011
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Congenital hypothyroidism with neurological and respiratory alterations: A case detected using a variable diagnostic threshold for Tsh
JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 3, Núm. 4, pp. 208-211