Zobrazeno 1 - 2
of 2
pro vyhledávání: '"MESH: Glycogen Debranching Enzyme System"'
Autor:
Federico Mingozzi, Patrice Vidal, Helena Costa Verdera, Bernard Gjata, Francesco Puzzo, Giuseppe Ronzitti, Laetitia van Wittenberghe, Giacomo P. Comi, Gilles Mithieux, Fanny Collaud, Sabrina Lucchiari, Pascal Laforêt, Edoardo Malfatti, Louisa Jauze, Monika Gjorgjieva, Fabienne Rajas, Marcelo Simon Sola, Solenne Marmier, Alban Vignaud, Serena Pagliarani, Severine Charles, Isabelle Richard, Pasqualina Colella
Publikováno v:
Molecular Therapy
Molecular Therapy, 2018, 26 (3), pp.890-901. ⟨10.1016/j.ymthe.2017.12.019⟩
Molecular Therapy, Nature Publishing Group, 2018, 26 (3), pp.890-901. ⟨10.1016/j.ymthe.2017.12.019⟩
Molecular Therapy, Cell Press, 2018, 26 (3), pp.890-901. ⟨10.1016/j.ymthe.2017.12.019⟩
Molecular Therapy, 2018, 26 (3), pp.890-901. ⟨10.1016/j.ymthe.2017.12.019⟩
Molecular Therapy, Nature Publishing Group, 2018, 26 (3), pp.890-901. ⟨10.1016/j.ymthe.2017.12.019⟩
Molecular Therapy, Cell Press, 2018, 26 (3), pp.890-901. ⟨10.1016/j.ymthe.2017.12.019⟩
International audience; Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder caused by a deficiency of glycogen-debranching enzyme (GDE), which results in profound liver metabolism impairment and muscle weakness. To date, no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed3d6db8c62020fa021bbd621512248f
https://hal.science/hal-02332988
https://hal.science/hal-02332988
Autor:
Bérénice Herszberg, Elena Giulotto, Pauline Decaunes, Francesca M. Piras, Stéphane Chaffaux, Xavier Mata, Bhanu P. Chowdhary, Gérard Guérin
Publikováno v:
Gene
Gene, Elsevier, 2007, 404 (1-2), pp.1-9. ⟨10.1016/j.gene.2007.07.034⟩
Gene, Elsevier, 2007, 404, pp.1-9
Gene, Elsevier, 2007, 404 (1-2), pp.1-9. ⟨10.1016/j.gene.2007.07.034⟩
Gene, Elsevier, 2007, 404, pp.1-9
International audience; Glycogen debranching enzyme (AGL) is a multifunctional enzyme acting in the glycogen degradation pathway. In humans, the AGL activity deficiency causes a type III glycogen storage disease (Cori-Forbes disease). One particulari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c240474692394bf551794b994a3f04
https://hal.archives-ouvertes.fr/hal-00973794
https://hal.archives-ouvertes.fr/hal-00973794