Suggested guidelines for the diagnosis and management of urea cycle disorders

Häberle, J.; Boddaert, N.; Burlina, A.; Chakrapani, A.; Dixon, M.; Huemer, M.; Karall, D.; Martinelli, D.; S. Crespo, P.; Santer, R.; Servais, A.; Valayannopoulos, V.; Lindner, M.; Rubio, V.; Dionisi-Vici, C.

doi:10.1186/1750-1172-7-32

Public

Suggested guidelines for the diagnosis and management of urea cycle disorders

Shared by NobleBlocks on May 29, 2012 • 12:00 AM UTC

Authors:

J. Häberle

N. Boddaert

A. Burlina

Abstract

Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and one mitochondrial ornithine/citrulline antiporter) with an estimated incidence of 1:8.000. Pati...

Subject

Medicine

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