Diagnosis and management of glutaric aciduria type I – revised recommendations

Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury which results from encephalopathic crises pre...

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Detalles Bibliográficos
Autores principales: Kölker, Stefan, Christensen, Ernst, Leonard, James V., Greenberg, Cheryl R., Boneh, Avihu, Burlina, Alberto B., Burlina, Alessandro P., Dixon, Marjorie, Duran, Marinus, García Cazorla, Angels, Goodman, Stephen I., Koeller, David M., Kyllerman, Mårten, Mühlhausen, Chris, Müller, Edith, Okun, Jürgen G., Wilcken, Bridget, Hoffmann, Georg F., Burgard, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2011
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3109243/
https://www.ncbi.nlm.nih.gov/pubmed/21431622
http://dx.doi.org/10.1007/s10545-011-9289-5

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