Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood

OBJECTIVE: The natural history of succinic semialdehyde dehydrogenase (SSADH) deficiency in adulthood is unknown; we elucidate the clinical manifestations of the disease later in life. METHODS: A 63-year-old man with long-standing intellectual disability was diagnosed with SSADH deficiency following...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: Lapalme-Remis, Samuel, Lewis, Evan Cole, De Meulemeester, Christine, Chakraborty, Pranesh, Gibson, K. Michael, Torres, Carlos, Guberman, Alan, Salomons, Gajja S., Jakobs, Cornelis, Ali-Ridha, Andre, Parviz, Mahsa, Pearl, Phillip L.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4560056/
https://ncbi.nlm.nih.gov/pubmed/26268900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001906
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