enzyme replacement therapy

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1
The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status.
Martins, Ana M;Cabrera, Gustavo;Molt, Fernando;Suárez-Obando, Fernando;Valdés, Régulo A;Varas, Carme...
2019 jimd reports DOI: 10.1002/jmd2.12071 277 views
2
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Khan, Aleena A;Case, Laura E;Herbert, Mrudu;DeArmey, Stephanie;Jones, Harrison;Crisp, Kelly;Zimmerma...
2020 Genetics in medicine : official journal of the Ame... DOI: 10.1038/s41436-019-0... 248 views
3
a pilot study on using rapamycin-carrying synthetic vaccine particles (svp) in conjunction with enzyme replacement therapy to induce immune tolerance in pompe disease
;Han-Hyuk Lim;Haiqing Yi;Takashi K. Kishimoto;Fengqin Gao;Baodong Sun;Priya S. Kishnani
2017 advances in skin & wound care DOI: 10.1016/j.ymgmr.2017... 192 views
4
control of proteinuria with increased doses of agalsidase alfa in a patient with fabry disease with atypical genotype–phenotype expression
;Christos Paliouras;Georgios Aperis;Foteini Lamprianou;Giorgos Ntetskas;Konstantinos Roufas;Polichro...
2015 demiryolu mühendisliği DOI: 10.1016/j.nefroe.201... 186 views
5
lipid profile in adult patients with fabry disease - ten-year follow up
;Karolina M. Stepien;Chris J. Hendriksz
2017 advances in skin & wound care DOI: 10.1016/j.ymgmr.2017... 162 views
6
successful reduction of high-sustained anti-idursulfase antibody titers by immune modulation therapy in a patient with severe mucopolysaccharidosis type ii
;Katherine H. Kim;Yoav H. Messinger;Barbara K. Burton
2015 advances in skin & wound care DOI: 10.1016/j.ymgmr.2014... 167 views
7
pompe disease: from pathophysiology to therapy and back again
;Jeong-A eLim;Lishu eLi;Nina eRaben
2014 Frontiers in chemistry DOI: 10.3389/fnagi.2014.0... 190 views
8
home infusion program with enzyme replacement therapy for fabry disease: the experience of a large italian collaborative group
;D. Concolino;L. Amico;M.D. Cappellini;E. Cassinerio;M. Conti;M.A. Donati;F. Falvo;A. Fiumara;M. Mac...
2017 advances in skin & wound care DOI: 10.1016/j.ymgmr.2017... 127 views

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Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366 450 views
jimd reports
ISSN: 2192-8304 347 views

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Registry latin america females fabry disease diagnostic delay pompe disease alglucosidase alfa high dose recombinant human gaa rapamycinmedicine (general)biology (general) urology cholesterol immune modulation autophagy lysosome lipofuscin neuropsychiatry biological psychiatry adherence home treatment