Protocolo de homocistinuria.
Couce ML, Balcells S,Sánchez-Pintos P, Aldámiz-Echevarría L,Del Toro M, Grinberg D.
Protocolos de diagnóstico y tratamiento de los Errores Congénitos del Metabolismo.
Gil D, AECOM eds.Madrid.Ed. Ergon: p. 167-179
CBS
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB et al.
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
J Inherit Metab Dis. 2017 ;40:49-74.
Trastornos de metilación
Barić I, Staufner C, Augoustides-Savvopoulou P, Chien YH, Dobbelaere D, Grünert SC et al.
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
J Inherit Metab Dis. 2017 ;40:5-20.
Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF et al.
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
J Inherit Metab Dis. 2017 ;40:21-48