Associated Papers
Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.
Zhang K et al.
Orphanet Journal of Rare Diseases, 2025
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
Higuchi Y et al.
Annals of Neurology, 2016
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