N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function
Article in Science Advances (June 2023)
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Prenatal diagnosis for a fetus with Walker-Warburg syndrome
Article in 中华医学遗传学杂志 (May 2023)
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG
Article in Journal of Pediatric Endocrinology and Metabolism (April 2023)