top of page
Acidemias orgánicas
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 
Homocistinuria y metilación-remetilación

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]

Trastornos del ciclo de la urea
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


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]

continuamos añadiendo nuevas guidelines......

bottom of page