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Joel Charrow

Showing results (81-90 of 110) with videos related to

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International Journal of Neonatal Screening|October 19, 2020
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 InfantsBarbara K Burton, Joel Charrow, George E Hoganson, et al.
American Journal of Hematology|June 2, 2017
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher RegistryPramod K Mistry, Julie L Batista, Hans C Andersson, et al.
Journal of the American Chemical Society|April 21, 2018
β-Glucocerebrosidase Modulators Promote Dimerization of β-Glucocerebrosidase and Reveal an Allosteric Binding SiteJianbin Zheng, Long Chen, Owen S Skinner, et al.
Neuromuscular Disorders : NMD|January 26, 2015
Safety and efficacy of alternative alglucosidase alfa regimens in Pompe diseaseLaura E Case, Carl Bjartmar, Claire Morgan, et al.
Journal of Medical Genetics|March 24, 2017
Mutations in <i>EFL1</i>, an <i>SBDS</i> partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndromePolina Stepensky, Montserrat Chacón-Flores, Katherine H Kim, et al.
Journal of Medical Genetics|March 22, 2015
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry diseaseDominique P Germain, Joel Charrow, Robert J Desnick, et al.
Archives of Internal Medicine|February 13, 2008
Prevalence of type 1 Gaucher disease in the United StatesNeal J Weinreb, Hans C Andersson, Maryam Banikazemi, et al.
Molecular Genetics and Metabolism|October 4, 2012
Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfaAns T van der Ploeg, Richard Barohn, Lisa Carlson, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|February 28, 2008
Neuroimaging findings in children with rare or novel de novo chromosomal anomaliesLeon G Epstein, Ali Jalali, Ajit N Chary, et al.
Journal of Medical Genetics|March 20, 2016
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry RegistryAlberto Ortiz, Ademola Abiose, Daniel G Bichet, et al.
Pageof 11

Showing results (81-90 of 110) with videos related to

Sort By:
Pageof 11
International Journal of Neonatal Screening|October 19, 2020
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 InfantsBarbara K Burton, Joel Charrow, George E Hoganson, et al.
American Journal of Hematology|June 2, 2017
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher RegistryPramod K Mistry, Julie L Batista, Hans C Andersson, et al.
Journal of the American Chemical Society|April 21, 2018
β-Glucocerebrosidase Modulators Promote Dimerization of β-Glucocerebrosidase and Reveal an Allosteric Binding SiteJianbin Zheng, Long Chen, Owen S Skinner, et al.
Neuromuscular Disorders : NMD|January 26, 2015
Safety and efficacy of alternative alglucosidase alfa regimens in Pompe diseaseLaura E Case, Carl Bjartmar, Claire Morgan, et al.
Journal of Medical Genetics|March 24, 2017
Mutations in <i>EFL1</i>, an <i>SBDS</i> partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndromePolina Stepensky, Montserrat Chacón-Flores, Katherine H Kim, et al.
Journal of Medical Genetics|March 22, 2015
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry diseaseDominique P Germain, Joel Charrow, Robert J Desnick, et al.
Archives of Internal Medicine|February 13, 2008
Prevalence of type 1 Gaucher disease in the United StatesNeal J Weinreb, Hans C Andersson, Maryam Banikazemi, et al.
Molecular Genetics and Metabolism|October 4, 2012
Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfaAns T van der Ploeg, Richard Barohn, Lisa Carlson, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|February 28, 2008
Neuroimaging findings in children with rare or novel de novo chromosomal anomaliesLeon G Epstein, Ali Jalali, Ajit N Chary, et al.
Journal of Medical Genetics|March 20, 2016
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry RegistryAlberto Ortiz, Ademola Abiose, Daniel G Bichet, et al.
Pageof 11