Associated Papers
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J et al.
Brain : a Journal of Neurology, 2024
38456468 (PubMed )
Supplement: awae056_supplementary_data.zip › brain-2023-02061-File008.pdf
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
Johnstone DL et al.
Journal of Inherited Metabolic Disease, 2020
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