Hasil Pencarian - Ruqaiah Altassan

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  1. 1
    Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders

    Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders oleh Ruqaiah Altassan, Stephanie Fox, Chantal Poulin, Daniela Buhas

    Diterbitkan 2018-06-01
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  2. 2
    Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1‐CDG)

    Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1‐CDG) oleh Ruqaiah Altassan, Dimpna C. Albert‐Brotons, Mohammad Alowain, Zohair Al‐Halees, Jaak Jaeken, Eva Morava

    Diterbitkan 2023-03-01
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  3. 3
    Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

    Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients oleh Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava

    Diterbitkan 2020-01-01
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  4. 4
    Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease

    Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease oleh Matthew J Bird, Isabelle Adant, Petra Windmolders, Ingrid Vander Elst, Catarina Felgueira, Ruqaiah Altassan, Sarah C Gruenert, Bart Ghesquière, Peter Witters, David Cassiman, Pieter Vermeersch

    Diterbitkan 2019-10-01
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