Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Orphanet J Rare Dis 2014, 9:130
J Inherit Metab Dis. 2016 Oct 24
Huemer M 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. 2016 Nov 30
Barić I et al.
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylationdisorders.
J Inherit Metab Dis. 2016 Sep 26. [Epub ahead of print]
Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D, Crespo PS, Santer R, Servais A, Valayannopoulos V, Lindner M, Rubio V, Dionisi-Vici C.Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis 2012;7: 32
Singh RH, et al. Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach. Mol Gen Metab 2016;118: 72-83
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
J Inherit Metab Dis. 2016 Nov 17. [Epub ahead of print]
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