GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
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University of Genoa
Génova, ItaliaPublicacións en colaboración con investigadores/as de University of Genoa (3)
2019
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352
2017
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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Journal of Inherited Metabolic Disease, Vol. 40, Núm. 1, pp. 21-48
2013
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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study
Pediatrics, Vol. 131, Núm. 6