GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
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University of Florence
Florencia, ItaliaPublicacións en colaboración con investigadores/as de University of Florence (2)
2019
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Newborn screening for homocystinurias: Recent recommendations versus current practice
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139
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