Works matching IS 21928312 AND DT 2023 AND VI 64 AND IP 3


Results: 7
    1
    2
    3
    4
    5

    Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 3, p. 223, doi. 10.1002/jmd2.12360
    By:
    • Poquérusse, Jessie;
    • Nolan, Melinda;
    • Thorburn, David R.;
    • Van Hove, Johan L. K.;
    • Friederich, Marisa W.;
    • Love, Donald R.;
    • Taylor, Juliet;
    • Powell, Christopher A.;
    • Minczuk, Michal;
    • Snell, Russell G.;
    • Lehnert, Klaus;
    • Glamuzina, Emma;
    • Jacobsen, Jessie C.
    Publication type:
    Article
    6

    A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 3, p. 217, doi. 10.1002/jmd2.12359
    By:
    • Rumping, Lynne;
    • Pouwels, Petra J. W.;
    • Wolf, Nicole I.;
    • Rehmann, Holger;
    • Wamelink, Mirjam M. C.;
    • Waisfisz, Quinten;
    • Jans, Judith J. M.;
    • Prinsen, Hubertus C. M. T.;
    • van de Kamp, Jiddeke M.;
    • van Hasselt, Peter M.
    Publication type:
    Article
    7

    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 3, p. 215, doi. 10.1002/jmd2.12298
    Publication type:
    Article