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...

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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha: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
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