Hasil Pencarian - Wasantha Ranatunga

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  1. 1
    Normal transferrin glycosylation does not rule out severe ALG1 deficiency

    Normal transferrin glycosylation does not rule out severe ALG1 deficiency oleh Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, Tamas Kozicz, Eva Morava

    Diterbitkan 2024-05-01
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  2. 2
    P341: Identification of novel variants and phenotypic expansion in OGT-CDG

    P341: Identification of novel variants and phenotypic expansion in OGT-CDG oleh Jan Verheijen, Lotte Vanhye, Ayesha Niaz Shaikh, Silvia Radenkovic, Wasantha Ranatunga, Pavel Pichurin, Joan Steyermark, Eric Klee, Eva Morava-Kozicz

    Diterbitkan 2023-01-01
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  3. 3
    Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker

    Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker oleh Ivan Martínez Duncker, Denisse Mata-Salgado, Ibrahim Shammas, Wasantha Ranatunga, Earnest James Paul Daniel, Mario E. Cruz Muñoz, Melania Abreu, Héctor Mora-Montes, Miao He, Eva Morava, Gildardo Zafra de la Rosa

    Diterbitkan 2024-05-01
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