Glutaric Aciduria I
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1334-1
Reference40 articles.
1. Basinger AA, Booker JK, Frazier DM, Koeberl DD, Sullivan JA, Muenzer J (2006) Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab 88:90–92. https://doi.org/10.1016/j.ymgme.2005.12.008
2. Biasucci G, Morelli N, Natacci F, Mastrangelo M (2018) Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report. Ital J Pediatr 44:8. https://doi.org/10.1186/s13052-018-0450-8
3. Boy N, Heringer J, Brackmann R, Bodamer O, Seitz A, Kolker S, Harting I (2017) Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. Orphanet J Rare Dis 12:77. https://doi.org/10.1186/s13023-017-0612-6
4. Boy N et al (2018) Newborn screening: a disease-changing intervention for glutaric aciduria type 1. Ann Neurol 83:970–979. https://doi.org/10.1002/ana.25233
5. Boy N, Garbade SF, Heringer J, Seitz A, Kolker S, Harting I (2019) Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1. J Inherit Metab Dis 42:117–127. https://doi.org/10.1002/jimd.12033
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