Works matching IS 01418955 AND DT 2021 AND VI 44 AND IP 5

Results: 18
    1

    High dose genistein in Sanfilippo syndrome: A randomised controlled trial.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1248, doi. 10.1002/jimd.12407
    By:
    • Ghosh, Arunabha;
    • Rust, Stewart;
    • Langford‐Smith, Kia;
    • Weisberg, Daniel;
    • Canal, Maria;
    • Breen, Catherine;
    • Hepburn, Michelle;
    • Tylee, Karen;
    • Vaz, Frédéric M.;
    • Vail, Andy;
    • Wijburg, Frits;
    • O'Leary, Claire;
    • Parker, Helen;
    • Wraith, J. Ed;
    • Bigger, Brian W.;
    • Jones, Simon A.
    Publication type:
    Article
    2

    A new D‐galactose treatment monitoring index for PGM1‐CDG.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1263, doi. 10.1002/jimd.12406
    By:
    • Perales‐Clemente, Ester;
    • Liedtke, Kristen;
    • Studinski, April;
    • Radenkovic, Silvia;
    • Gavrilov, Dimitar;
    • Oglesbee, Devin;
    • Matern, Dietrich;
    • Rinaldo, Piero;
    • Tortorelli, Silvia;
    • Morava, Eva;
    • Raymond, Kimiyo
    Publication type:
    Article
    3

    OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1235, doi. 10.1002/jimd.12404
    By:
    • Gobin‐Limballe, Stephanie;
    • Ottolenghi, Chris;
    • Reyal, Fabien;
    • Arnoux, Jean‐Baptiste;
    • Magen, Maryse;
    • Simon, Marie;
    • Brassier, Anaïs;
    • Jabot‐Hanin, Fabienne;
    • Lonlay, Pascale De;
    • Pontoizeau, Clement;
    • Guirat, Manel;
    • Rio, Marlene;
    • Gesny, Roselyne;
    • Gigarel, Nadine;
    • Royer, Ghislaine;
    • Steffann, Julie;
    • Munnich, Arnold;
    • Bonnefont, Jean‐Paul
    Publication type:
    Article
    4

    Regulatory news: Nulibry (fosdenopterin) approved to reduce the risk of mortality in patients with molybdenum cofactor deficiency type A: FDA approval summary.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1085, doi. 10.1002/jimd.12421
    By:
    • Farrell, Sheila;
    • Karp, Jacqueline;
    • Hager, Rebecca;
    • Wang, Yan;
    • Adeniyi, Oluseyi;
    • Wang, Jie;
    • Li, Liang;
    • Ma, Lian;
    • Peretz, Jackye;
    • Summan, Mukesh;
    • Kong, Nicolas;
    • White, Michael;
    • Pacanowski, Michael;
    • Price, Dionne;
    • Filie, Jane;
    • Donohue, Kathleen;
    • Joffe, Hylton
    Publication type:
    Article
    5
    6

    Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1272, doi. 10.1002/jimd.12412
    By:
    • Brennenstuhl, Heiko;
    • Nashawi, Mohammed;
    • Schröter, Julian;
    • Baronio, Federico;
    • Beedgen, Lars;
    • Gleich, Florian;
    • Jeltsch, Kathrin;
    • von Landenberg, Christina;
    • Martini, Silvia;
    • Simon, Anna;
    • Thiel, Christian;
    • Tsiakas, Konstantinos;
    • Opladen, Thomas;
    • Kölker, Stefan;
    • Hoffmann, Georg F.;
    • Haas, Dorothea
    Publication type:
    Article
    7

    In vitro functional analysis of four variants of human asparagine synthetase.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1226, doi. 10.1002/jimd.12408
    By:
    • Matsumoto, Hideki;
    • Kawashima, Nana;
    • Yamamoto, Takahiro;
    • Nakama, Mina;
    • Otsuka, Hiroki;
    • Ago, Yasuhiko;
    • Sasai, Hideo;
    • Kubota, Kazuo;
    • Ozeki, Michio;
    • Kawamoto, Norio;
    • Esaka, Yukihiro;
    • Ohnishi, Hidenori
    Publication type:
    Article
    8

    Mucopolysaccharidoses type I gene therapy.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1088, doi. 10.1002/jimd.12414
    By:
    • Hurt, Sarah C.;
    • Dickson, Patricia I.;
    • Curiel, David T.
    Publication type:
    Article
    9

    Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1199, doi. 10.1002/jimd.12403
    By:
    • Toquet, Ségolène;
    • Spodenkiewicz, Marta;
    • Douillard, Claire;
    • Maillot, François;
    • Arnoux, Jean‐Baptiste;
    • Damaj, Lena;
    • Odent, Sylvie;
    • Moreau, Caroline;
    • Redonnet‐Vernhet, Isabelle;
    • Mesli, Samir;
    • Servais, Aude;
    • Noel, Esther;
    • Charriere, Sybill;
    • Rigalleau, Vincent;
    • Lavigne, Christian;
    • Kaphan, Elsa;
    • Roubertie, Agathe;
    • Besson, Gérard;
    • Bigot, Adrien;
    • Servettaz, Amélie
    Publication type:
    Article
    10
    11

    Metachromatic leukodystrophy: A single‐center longitudinal study of 45 patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1151, doi. 10.1002/jimd.12388
    By:
    • Fumagalli, Francesca;
    • Zambon, Alberto A.;
    • Rancoita, Paola M. V.;
    • Baldoli, Cristina;
    • Canale, Sabrina;
    • Spiga, Ivana;
    • Medaglini, Stefania;
    • Penati, Rachele;
    • Facchini, Marcella;
    • Ciotti, Francesca;
    • Sarzana, Marina;
    • Lorioli, Laura;
    • Cesani, Martina;
    • Natali Sora, Maria Grazia;
    • Del Carro, Ubaldo;
    • Cugnata, Federica;
    • Antonioli, Gigliola;
    • Recupero, Salvatore;
    • Calbi, Valeria;
    • Di Serio, Clelia
    Publication type:
    Article
    12
    13
    14

    A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1124, doi. 10.1002/jimd.12386
    By:
    • Rossi, Alessandro;
    • Hoogeveen, Irene J.;
    • Lubout, Charlotte M. A.;
    • de Boer, Foekje;
    • Fokkert‐Wilts, Marieke J.;
    • Rodenburg, Iris L.;
    • van Dam, Esther;
    • Grünert, Sarah C.;
    • Martinelli, Diego;
    • Scarpa, Maurizio;
    • Dekker, Hanka;
    • te Boekhorst, Sebastiaan T.;
    • van Spronsen, Francjan J.;
    • Derks, Terry G. J.
    Publication type:
    Article
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    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1, doi. 10.1002/jimd.12260
    Publication type:
    Article