Associated Papers
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.
Freua F et al.
Cold Spring Harbor Molecular Case Studies, 2022
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.
Giordani GM et al.
Scientific Reports, 2021
34782662 (PubMed )
Supplement: 41598_2021_1635_MOESM2_ESM.xlsx › Plan1
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
Huemer M et al.
Journal of Inherited Metabolic Disease, 2016
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