GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
Universidad de Las Palmas de Gran Canaria
Las Palmas de Gran Canaria, EspañaPublicacións en colaboración con investigadores/as de Universidad de Las Palmas de Gran Canaria (12)
2023
2022
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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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Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692
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Métodos para la evaluación económica de programas de cribado neonatal
Revista espanola de salud publica, Vol. 95
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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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Betaine anhydrous in homocystinuria: Results from the RoCH registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
2018
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Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)
Journal of Inherited Metabolic Disease
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Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)
Journal of Inherited Metabolic Disease
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Protocolo de diagnóstico y tratamiento de las deficiencias de la β-oxidación mitocondrial de los ácidos grasos
Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 43-66
2016
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Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Journal of Inherited Metabolic Disease, Vol. 39, Núm. 5, pp. 661-672
2012
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Estudio epidemiológico de las enfermedades metabólicas con homocistinuria en España
Anales de Pediatria, Vol. 76, Núm. 3, pp. 133-139
2010
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Update of knowledge, recommendations and full consensus about the role of long chain polyunsaturated fatty acids in pregnancy, lactating period and first year of life
Medicina Clinica, Vol. 135, Núm. 2, pp. 75-82