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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4304088/
https://www.ncbi.nlm.nih.gov/pubmed/25026867
http://dx.doi.org/10.1186/s13023-014-0105-9

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