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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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Dades bibliogràfiques
Publicat a:J Child Orthop
Autors principals: Imerci, Ahmet, Strauss, Kevin A., Oleas-Santillan, Geovanny F., Miller, Freeman
Format: Artigo
Idioma:Inglês
Publicat: The British Editorial Society of Bone & Joint Surgery 2020
Matèries:
Accés en línia: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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