Cargando…
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...
Autores principales: | Imerci, Ahmet, Strauss, Kevin A., Oleas-Santillan, Geovanny F., Miller, Freeman |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The British Editorial Society of Bone & Joint Surgery
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7666789/ https://www.ncbi.nlm.nih.gov/pubmed/33204356 http://dx.doi.org/10.1302/1863-2548.14.200059 |
Ejemplares similares
-
Glutaric Acidemia, Pathogenesis and Nutritional Therapy
por: Li, Qian, et al.
Publicado: (2021) -
Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1
por: Barroso, Madalena, et al.
Publicado: (2023) -
Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1
por: Zayed, Hatem, et al.
Publicado: (2019) -
Detection of glutaric acidemia type 1 in infants through tandem mass spectrometry
por: Babu, Ruby P., et al.
Publicado: (2015) -
A new celll model of glutaric acidemia type I and the toxicity research
por: Zhang, Cai, et al.
Publicado: (2013)