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Orthopaedic manifestations of glutaric acidemia Type 1

PURPOSE: Glutaric acidemia type 1 (GA1), a rare hereditary metabolic disease caused by biallelic mutations of GCDH, can result in acute or insidious striatal degeneration within the first few years of life. We reviewed the orthopaedic sequelae and management of 114 neurologically injured patients wi...

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Pubblicato in:J Child Orthop
Autori principali: Imerci, Ahmet, Strauss, Kevin A., Oleas-Santillan, Geovanny F., Miller, Freeman
Natura: Artigo
Lingua:Inglês
Pubblicazione: The British Editorial Society of Bone & Joint Surgery 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7666789/
https://ncbi.nlm.nih.gov/pubmed/33204356
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1302/1863-2548.14.200059
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