Found: 3

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  • Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2155, doi. 10.1002/acn3.51470
    By:
    • Hikmat, Omar;
    • Isohanni, Pirjo;
    • Keshavan, Nandaki;
    • Ferla, Matteo P.;
    • Fassone, Elisa;
    • Abbott, Mary‐Alice;
    • Bellusci, Marcello;
    • Darin, Niklas;
    • Dimmock, David;
    • Ghezzi, Daniele;
    • Houlden, Henry;
    • Invernizzi, Federica;
    • Kamarus Jaman, Nazreen B.;
    • Kurian, Manju A.;
    • Morava, Eva;
    • Naess, Karin;
    • Ortigoza‐Escobar, Juan Darío;
    • Parikh, Sumit;
    • Pennisi, Alessandra;
    • Barcia, Giulia
    Publication type:
    Article

  • SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.

    Published in:
    Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.737094
    By:
    • Kamarus Jaman, Nazreen;
    • Rehsi, Preeya;
    • Henderson, Robert H.;
    • Löbel, Ulrike;
    • Mankad, Kshitij;
    • Grunewald, Stephanie
    Publication type:
    Article

  • The natural history of glycogen storage disease type Ib in England: A multisite survey.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 52, doi. 10.1002/jmd2.12200
    By:
    • Halligan, Rebecca;
    • White, Fiona J.;
    • Schwahn, Bernd;
    • Stepien, Karolina M.;
    • Kamarus Jaman, Nazreen;
    • McSweeney, Mel;
    • Kitchen, Steve;
    • Gribben, Joanna;
    • Dawson, Charlotte;
    • Lewis, Katherine;
    • Cregeen, David;
    • Mundy, Helen;
    • Santra, Saikat
    Publication type:
    Article