Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

BACKGROUND: X-linked Ornithine Transcarbamylase deficiency (OTCD) is often unrecognized in adults, as clinical manifestations are non-specific, often episodic and unmasked by precipitants, and laboratory findings can be normal outside the acute phase. It may thus be associated with significant morta...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Cavicchi, Catia, Donati, Maria Alice, Parini, Rossella, Rigoldi, Miriam, Bernardi, Mauro, Orfei, Francesca, Gentiloni Silveri, Nicolò, Colasante, Aniello, Funghini, Silvia, Catarzi, Serena, Pasquini, Elisabetta, la Marca, Giancarlo, Mooney, Sean David, Guerrini, Renzo, Morrone, Amelia
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2014
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4304088/
https://ncbi.nlm.nih.gov/pubmed/25026867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0105-9
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker