Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review.
Bin Sawad A, Jackimiec J, Bechter M, Trucillo A, Lindsley K, Bhagat A, Uyei J, Diaz GA.
Bin Sawad A, et al.
Mol Genet Metab. 2022 Sep-Oct;137(1-2):153-163. doi: 10.1016/j.ymgme.2022.08.005. Epub 2022 Aug 25.
Mol Genet Metab. 2022.
PMID: 36049366
Free article.
Review.
It typically presents in early childhood with spasticity (predominately affecting the lower limbs), mobility impairment, seizures, developmental delay, and intellectual disability. ...Common manifestations reported at time of diagnosis and assessed for disease progr …
It typically presents in early childhood with spasticity (predominately affecting the lower limbs), mobility impairment, seizures …