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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Détails bibliographiques
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Springer Netherlands 2011
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Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3109243/
https://ncbi.nlm.nih.gov/pubmed/21431622
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-011-9289-5
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