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Genotype-Phenotype Correlations in PMM2-CDG

Vaes, Laurien; Rymen, Daisy; Cassiman, David; Ligezka, Anna; Vanhoutvin, Nele; Quelhas, D; Morava, Eva; Witters, Peter

PMM2-CDG is a rare disease, causing hypoglycosylation of multiple proteins, hence preventing full functionality. So far, no direct genotype-phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2-CDG patients. We collected the identified genotype, as well as continuous variables indicating the disease severity (based on Nijmegen Pediatric CDG Rating Score or NPCRS) an...

Date: 2021   |   Origin: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)
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