Baumgartner, Friederike Hörster, Carlo Dionisio-Vici et al.

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Orphanet J Rare Dis 2014, 9:130 

Morris AA et al.
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

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

Welling L et al.

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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