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TITLE: Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil  Full Text
AUTHORS: Guffon, Nathalie; Chowdary, Pratima; Teles, Elisa Leao; Hughes, Derralynn; Hennermann, Julia B.; Huot Marchand, Philippe; Faudot Vernier, Elodie; Lacombe, Olivier; Fiquet, Anne; Richard, Marie Paule; Abitbol, Jean Louis; Tallandier, Mireille; Hendriksz, Christian J.;
PUBLISHED: 2022, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 45, ISSUE: 2
INDEXED IN: Scopus WOS
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TITLE: cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression   Full Text
AUTHORS: Petra Zavadáková; Brian Fowler; Terttu Suormala; Zorka Novotna; Peter Mueller; Julia B Hennermann; Jiří Zeman; Antonia A Vilaseca; Laura Vilarinho; Sven Gutsche; Ekkehard Wilichowski; Gerd Horneff; Viktor Kožich;
PUBLISHED: 2005, SOURCE: Human Mutation - Hum. Mutat., VOLUME: 25, ISSUE: 3
INDEXED IN: CrossRef
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TITLE: cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression  Full Text
AUTHORS: Petra Zavadáková; Brian Fowler; Terttu Suormala; Zorka Novotna; Peter Mueller; Julia B Hennermann; Jiří Zeman; Antonia A Vilaseca; Laura Vilarinho; Sven Gutsche; Ekkehard Wilichowski; Gerd Horneff; Viktor Kožich;
PUBLISHED: 2005, SOURCE: Human Mutation - Hum. Mutat., VOLUME: 26, ISSUE: 6
INDEXED IN: CrossRef