Diagnosis and management of glutaric aciduria type I – revised recommendations

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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Bibliographic Details
Main Authors: 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: Online
Language:English
Published: Springer Netherlands 2011
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3109243/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3109243/

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