Works matching IS 21928312 AND DT 2020 AND VI 55 AND IP 1


Results: 15
    1

    Neonatal presentation of COG6‐CDG with prominent skin phenotype.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 51, doi. 10.1002/jmd2.12154
    By:
    • Komlosi, Katalin;
    • Gläser, Selina;
    • Kopp, Julia;
    • Hotz, Alrun;
    • Alter, Svenja;
    • Zimmer, Andreas D.;
    • Beger, Carmela;
    • Heinzel, Stefan;
    • Schmidt, Christoph;
    • Fischer, Judith
    Publication type:
    Article
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    Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 59, doi. 10.1002/jmd2.12130
    By:
    • Carducci, Carla;
    • Amayreh, Wajdi;
    • Ababneh, Haneen;
    • Mahasneh, Amjad;
    • Al Rababah, Buthaina;
    • Al Qaqa, Kefah;
    • Al Aqeel, Momen;
    • Artiola, Cristiana;
    • Tolve, Manuela;
    • D'Amici, Sirio;
    • Shen, Nan;
    • Yu, Yongguo;
    • Hillert, Alicia;
    • Himmelreich, Nastassja;
    • Okun, Jürgen G.;
    • Hoffmann, Georg F.;
    • Blau, Nenad
    Publication type:
    Article
    14

    GYG1: A distal myopathy with polyglucosan bodies.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 88, doi. 10.1002/jmd2.12129
    By:
    • Nicolau, Stefan;
    • Tracy, Jennifer A.;
    • Pisapia, David J.;
    • Tanji, Kurenai;
    • Milone, Margherita
    Publication type:
    Article
    15

    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 1, doi. 10.1002/jmd2.12105
    Publication type:
    Article