Works matching IS 01418955 AND DT 2025 AND VI 48 AND IP 2

Results: 26
    1

    Never‐Treated, Non Splenectomised Patients With Gaucher Disease (The French GANT Study): The Prospective Follow‐Up.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 2, p. 1, doi. 10.1002/jimd.70026
    By:
    • Nasce, Alberto;
    • Nguyen, Yann;
    • Belmatoug, Nadia;
    • Yousfi, Karima;
    • Camou, Fabrice;
    • Pettazzoni, Magali;
    • Dalbies, Florence;
    • Cador, Bérengère;
    • Brassier, Anaïs;
    • Pichard, Samia;
    • Hivert, Bénédicte;
    • Swiader, Laure;
    • Bertchansky, Ivan;
    • Seguin, Vanessa Leguy;
    • Mauhin, Wladimir;
    • Astudillo, Leonardo;
    • Rainsard, Isabelle Hau;
    • Humbert, Sébastien;
    • Hoebeke, Celia;
    • Hamroun, Dalil
    Publication type:
    Article
    2
    3
    4
    5
    6
    7
    8
    9

    Elevated Cerebrospinal Fluid Total Tau in Niemann‐Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 2, p. 1, doi. 10.1002/jimd.70016
    By:
    • Cawley, Niamh X.;
    • Zhou, Ruyu;
    • Farhat, Nicole M.;
    • Iben, James;
    • Alexander, Derek M.;
    • Luke, Rachel A.;
    • Padilla, Cameron J.;
    • Mohamed, Hibaaq O.;
    • Albert, Orsolya K.;
    • Robbins, Kendall P.;
    • Rahhal, Samar;
    • Do, An Dang;
    • Berry‐Kravis, Elizabeth;
    • Cologna, Stephanie M.;
    • Liu, Fang;
    • Porter, Forbes D.
    Publication type:
    Article
    10
    11

    Safety and Efficacy of DTX401, an AAV8‐Mediated Liver‐Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 2, p. 1, doi. 10.1002/jimd.70014
    By:
    • Weinstein, David A.;
    • Derks, Terry G.;
    • Rodriguez‐Buritica, David F.;
    • Ahmad, Ayesha;
    • Couce, María‐Luz;
    • Mitchell, John J.;
    • Riba‐Wolman, Rebecca;
    • Mount, Malaya;
    • Sallago, Julieta Bonvin;
    • Ross, Katalin M.;
    • van der Klauw, Melanie M.;
    • de Boer, Foekje;
    • van der Schaaf, Caroline;
    • Saavedra, Heather;
    • Martínez‐Olmos, Miguel;
    • Atanga, Elvis;
    • Hosseini, Asad;
    • Mitragotri, Deepali;
    • Crombez, Eric
    Publication type:
    Article
    12
    13
    14
    15

    Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 2, p. 1, doi. 10.1002/jimd.70010
    By:
    • Safarikia, Samira;
    • Cirelli, Riccardo;
    • Spagnoletti, Gionata;
    • Martinelli, Diego;
    • Bravetti, Giulia;
    • Francalanci, Paola;
    • D'Alessandro, Annamaria;
    • Di Felice, Giovina;
    • Maistri, Marta;
    • Baldissone, Elena;
    • Fratti, Alberto M.;
    • Simeoli, Raffaele;
    • Sacchetti, Elisa;
    • Cairoli, Sara;
    • Rizzo, Cristiano;
    • Pariante, Rosanna;
    • Vacca, Michele;
    • Cappoli, Andrea;
    • Albano, Christian;
    • Pietrobattista, Andrea
    Publication type:
    Article
    16
    17
    18
    19

    C1GALT1C1‐Associated Mosaic Disorder of Glycosylation in a Female.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 2, p. 1, doi. 10.1002/jimd.70006
    By:
    • Aryal, Rajindra P.;
    • Ramanujan, Aditya;
    • Bucci, Camille;
    • Neckelmann, Christian;
    • Heimburg‐Molinaro, Jamie;
    • Cummings, Sandra F.;
    • Erger, Florian;
    • Beck, Bodo B.;
    • Seaver, Laurie H.;
    • Cummings, Richard D.
    Publication type:
    Article
    20

    The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 2, p. 1, doi. 10.1002/jimd.70005
    By:
    • Tchan, Michel;
    • Lehman, Anna;
    • van Dussen, Laura;
    • Langendonk, Janneke G.;
    • Janssen, Mirian C. H.;
    • Langeveld, Mirjam;
    • Murphy, Elaine;
    • Ryder, Bryony;
    • Glamuzina, Emma;
    • Merkel, Martin;
    • Sechi, Annalisa;
    • Arnoux, Jean‐Baptiste;
    • Mochel, Fanny;
    • Alkemade, Gonnie;
    • Maillot, Francois;
    • Kaphan, Elsa;
    • Mazodier, Karin;
    • Thomas, Quentin;
    • Leguy‐Seguin, Vanessa;
    • Marelli, Cecilia
    Publication type:
    Article
    21
    22
    23
    24

    Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 2, p. 1, doi. 10.1002/jimd.70001
    By:
    • Ilgaz, Fatma;
    • Höller, Alexander;
    • Marsaux, Cyril;
    • Banta‐Wright, Sandra;
    • Coşkun, Turgay;
    • Dingess, Kelly A.;
    • Jörg‐Streller, Monika;
    • Newby, Camille;
    • Singh, Rani;
    • Stahl, Bernd;
    • Szwec, Clare;
    • van Wegberg, Annemiek;
    • Woestenenk, Willie;
    • MacDonald, Anita;
    • Karall, Daniela
    Publication type:
    Article
    25
    26

    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 2, p. 1, doi. 10.1002/jimd.12758
    Publication type:
    Article