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American Journal of Medical Genetics. Part A
|
April 9, 2020
Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation
Emily M Bryant, John J Millichap, Egidio Spinelli, et al.
European Journal of Pediatrics
|
December 17, 2003
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements
Gregory A Grabowski, Generoso Andria, Antonio Baldellou, et al.
European Journal of Pediatrics
|
December 17, 2003
Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring
Antonio Baldellou, Generoso Andria, Pauline E Campbell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 7, 2009
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1
Gregory A Grabowski, Katherine Kacena, J Alexander Cole, et al.
American Journal of Hematology
|
April 30, 2024
Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry
Pramod K Mistry, Manisha Balwani, Joel Charrow, et al.
Cold Spring Harbor Molecular Case Studies
|
February 20, 2021
Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia
Alexander Ing, Alissa Wlodaver, Dawn Kirschmann, et al.
Molecular Genetics and Metabolism
|
June 6, 2015
Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase
Laurie Smith, William Rhead, Joel Charrow, et al.
American Journal of Hematology
|
March 18, 2015
Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease
Deborah Elstein, Atul Mehta, Derralynn A Hughes, et al.
The American Journal of Medicine
|
July 23, 2002
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry
Neal J Weinreb, Joel Charrow, Hans C Andersson, et al.
Molecular Genetics and Metabolism
|
August 12, 2016
Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry
Robert J Hopkin, Gustavo Cabrera, Joel Charrow, et al.
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of 11
Search research articles
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Showing results (61-70 of 110) with videos related to
Sort By:
Page
of 11
American Journal of Medical Genetics. Part A
|
April 9, 2020
Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation
Emily M Bryant, John J Millichap, Egidio Spinelli, et al.
European Journal of Pediatrics
|
December 17, 2003
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements
Gregory A Grabowski, Generoso Andria, Antonio Baldellou, et al.
European Journal of Pediatrics
|
December 17, 2003
Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring
Antonio Baldellou, Generoso Andria, Pauline E Campbell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 7, 2009
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1
Gregory A Grabowski, Katherine Kacena, J Alexander Cole, et al.
American Journal of Hematology
|
April 30, 2024
Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry
Pramod K Mistry, Manisha Balwani, Joel Charrow, et al.
Cold Spring Harbor Molecular Case Studies
|
February 20, 2021
Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia
Alexander Ing, Alissa Wlodaver, Dawn Kirschmann, et al.
Molecular Genetics and Metabolism
|
June 6, 2015
Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase
Laurie Smith, William Rhead, Joel Charrow, et al.
American Journal of Hematology
|
March 18, 2015
Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease
Deborah Elstein, Atul Mehta, Derralynn A Hughes, et al.
The American Journal of Medicine
|
July 23, 2002
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry
Neal J Weinreb, Joel Charrow, Hans C Andersson, et al.
Molecular Genetics and Metabolism
|
August 12, 2016
Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry
Robert J Hopkin, Gustavo Cabrera, Joel Charrow, et al.
Page
of 11