Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Rebecca Pleat"'
Autor:
T. Andrew Burrow, Pilar Giraldo, Ozlem Goker-Alpan, Sebastiaan J.M. Gaemers, Barry E. Rosenbloom, Lisa H. Underhill, Laura R. Croal, Timothy M. Cox, Rebecca Pleat, M. Judith Peterschmitt
Publikováno v:
Molecular Genetics and Metabolism Reports
Gaucher disease type 1 is an autosomal recessive disorder caused by deficient activity of the lysosomal enzyme acid β-glucosidase resulting in accumulation of glucosylceramide and clinical manifestations of anemia, thrombocytopenia, hepatosplenomega
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de878d2f3344842a3c2d5e4f5f533f82
Autor:
Cyril Goizet, Deborah Barbouth, Norberto Guelbert, Ana Maria Martins, Sandra Obikawa Kyosen, Iva Ivanovska Holder, Rebecca Pleat, Chanika Phornphutkul, Shari Fallet, Youssef Benhayoun, Nouriya Al-Sannaa, Simon Jones, Celia Reig
Publikováno v:
Molecular Genetics and Metabolism. 114:S93-S94
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb74595ded2fa4d2ae5be978e71d8e1b
https://doi.org/10.1016/j.ymgme.2014.12.208
https://doi.org/10.1016/j.ymgme.2014.12.208
Autor:
Ana Maria Martins, Cyril Goizet, Sandra Obikawa Kyosen, Nouriya Al-Sannaa, Simon Jones, Celia Reig, Rebecca Pleat, Deborah Barbouth, Chanika Phornphutkul, Youssef Benhayoun, Luisa Bay, Norberto Guelbert, Shari Fallet, Iva Ivanovska Holder
Publikováno v:
Orphanet Journal of Rare Diseases
Background Enzyme replacement therapy (ERT) with laronidase, (recombinant human α-L-iduronidase; Aldurazyme) is the primary treatment option for patients with attenuated mucopolysaccharidosis type I (MPS I). This study examined the effect of early E
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeb963d902f9a1af39f1b783431c6092