Publications by authors named "Liz Yuet-Ping Yuen"

With the rapid advancement of medical technologies in genomic and molecular medicine, the number of treatable neurometabolic diseases is quickly expanding. Spastic paraplegia 56 (SPG56), one of the severe autosomal recessive forms of neurodegenerative disorders caused by pathogenic variants in the gene, has no reported specific targeted treatment yet. Here we report 2 Chinese brothers with bi-allelic pathogenic variants with cerebral folate deficiency who were treated for over a decade with folinic acid supplement.

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