Guidelines Homocistinuria

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 

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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. 


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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. 


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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


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