Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers

Early diagnosis and dietary treatment do not prevent long-term complications, which mostly affect the central nervous system in classical galactosemia patients. The clinical outcome of patients is highly variable, and there is an urgent need for prognostic biomarkers. The aim of this study was first...

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Detalhes bibliográficos
Publicado no:Brain Commun
Main Authors: Welsink-Karssies, Mendy M, Ferdinandusse, Sacha, Geurtsen, Gert J, Hollak, Carla E M, Huidekoper, Hidde H, Janssen, Mirian C H, Langendonk, Janneke G, van der Lee, Johanna H, O’Flaherty, Roisin, Oostrom, Kim J, Roosendaal, Stefan D, Rubio-Gozalbo, M Estela, Saldova, Radka, Treacy, Eileen P, Vaz, Fred M, de Vries, Maaike C, Engelen, Marc, Bosch, Annet M
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7425409/
https://ncbi.nlm.nih.gov/pubmed/32954279
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/braincomms/fcaa006
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