Works matching IS 01418955 AND DT 2024 AND VI 47 AND IP 4

Results: 21
    1

    Regulatory news: Olipudase alfa‐rpcp (Xenpozyme™) for treatment of non‐central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric patients—FDA Approval summary.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 575, doi. 10.1002/jimd.12754
    By:
    • Hon, Yuen Yi;
    • Zaidi, Anita;
    • Giffin, Andrew;
    • Wang, Yan;
    • Lei, Nie;
    • Hossain, Md Nayeem;
    • Wang, Jie;
    • Li, Hongshan;
    • Liu, Guansheng;
    • Liu, Jiang;
    • Yang, Yuching;
    • Zhu, Hao;
    • Pacanowski, Michael;
    • McLeod‐Flynn, Laurie;
    • Summan, Mukesh;
    • Liu, Yongmin;
    • Sheikh, Faruk;
    • Dickensheets, Harold;
    • Kim, Jennifer;
    • McWilliams, Ian
    Publication type:
    Article
    2

    Regulatory news: Cipaglucosidase alfa‐atga (Pombiliti) coadministered with Miglustat (Opfolda) for adults with late‐onset Pompe disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 578, doi. 10.1002/jimd.12744
    By:
    • Luquetti, Daniela V.;
    • Jeng, Linda J. B.;
    • Donohue, Kathleen M.;
    • Maynard, Janet W.;
    • Morris, Emily;
    • Wang, Yan;
    • Nie, Lei;
    • Adeniyi, Oluseyi;
    • Ready, Travis;
    • Li, RuoJing;
    • Wang, Jie;
    • Liu, Jiang;
    • Pacanowski, Michael;
    • McNerney, Mary Ellen;
    • Akinshola, B. Emmanuel;
    • McLeod‐Flynn, Laurie;
    • Weis, Shawna;
    • Summan, Mukesh;
    • Namuswe, Frances;
    • Shafiei, Hamid
    Publication type:
    Article
    3
    4
    5
    6
    7

    Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 746, doi. 10.1002/jimd.12738
    By:
    • Gillingham, Melanie B.;
    • Choi, Dongseok;
    • Gregor, Ashley;
    • Wongchaisuwat, Nida;
    • Black, Danielle;
    • Scanga, Hannah L.;
    • Nischal, Ken K.;
    • Sahel, Jose‐Alain;
    • Arnold, Georgianne;
    • Vockley, Jerry;
    • Harding, Cary O.;
    • Pennesi, Mark E.
    Publication type:
    Article
    8
    9
    10
    11
    12
    13
    14

    Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3‐related CD27 expression in CD4 T cells in Fabry disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 818, doi. 10.1002/jimd.12727
    By:
    • Mauhin, Wladimir;
    • Dzangue‐Tchoupou, Gaelle;
    • Amelin, Damien;
    • Corneau, Aurélien;
    • Lamari, Foudil;
    • Allenbach, Yves;
    • Dussol, Bertrand;
    • Leguy‐Seguin, Vanessa;
    • D'Halluin, Pauline;
    • Matignon, Marie;
    • Maillot, François;
    • Ly, Kim‐Heang;
    • Besson, Gérard;
    • Willems, Marjolaine;
    • Labombarda, Fabien;
    • Masseau, Agathe;
    • Lavigne, Christian;
    • Lacombe, Didier;
    • Maillard, Hélène;
    • Lidove, Olivier
    Publication type:
    Article
    15
    16

    Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 674, doi. 10.1002/jimd.12731
    By:
    • Reischl‐Hajiabadi, Anna T.;
    • Schnabel, Elena;
    • Gleich, Florian;
    • Mengler, Katharina;
    • Lindner, Martin;
    • Burgard, Peter;
    • Posset, Roland;
    • Lommer‐Steinhoff, Svenja;
    • Grünert, Sarah C.;
    • Thimm, Eva;
    • Freisinger, Peter;
    • Hennermann, Julia B.;
    • Krämer, Johannes;
    • Gramer, Gwendolyn;
    • Lenz, Dominic;
    • Christ, Stine;
    • Hörster, Friederike;
    • Hoffmann, Georg F.;
    • Garbade, Sven F.;
    • Kölker, Stefan
    Publication type:
    Article
    17

    Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU‐MOMs sub‐registries

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 636, doi. 10.1002/jimd.12724
    By:
    • Feillet, François;
    • Ficicioglu, Can;
    • Lagler, Florian B.;
    • Longo, Nicola;
    • Muntau, Ania C.;
    • Burlina, Alberto;
    • Trefz, Friedrich K.;
    • van Spronsen, Francjan J.;
    • Arnoux, Jean‐Baptiste;
    • Lindstrom, Kristin;
    • Lilienstein, Joshua;
    • Clague, Gillian E.;
    • Rowell, Richard;
    • Burton, Barbara K.
    Publication type:
    Article
    18
    19
    20
    21

    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 1, doi. 10.1002/jimd.12630
    Publication type:
    Article