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Molecular Genetics and Metabolism
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January 24, 2018
Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial
Joel Charrow, Cristina Fraga, Xuefan Gu, et al.
Molecular Genetics and Metabolism
|
December 16, 2014
Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome
Joel Charrow, Tord D Alden, Catherine Ann R Breathnach, et al.
The Journal of Pediatrics
|
January 15, 2004
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations
Joel Charrow, Hans C Andersson, Paige Kaplan, et al.
Journal of the American Society of Nephrology : JASN
|
April 6, 2007
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
Dominique P Germain, Stephen Waldek, Maryam Banikazemi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 17, 2005
Individualization of long-term enzyme replacement therapy for Gaucher disease
Hans C Andersson, Joel Charrow, Paige Kaplan, et al.
American Journal of Medical Genetics. Part A
|
October 11, 2018
Schaaf-Yang syndrome overview: Report of 78 individuals
John McCarthy, Philip J Lupo, Erin Kovar, et al.
American Journal of Medical Genetics. Part A
|
November 24, 2004
The genetics of tethered cord syndrome
Alexander G Bassuk, David Craig, Ali Jalali, et al.
The Journal of Pediatrics
|
July 22, 2017
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
Barbara K Burton, Joel Charrow, George E Hoganson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 17, 2007
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency
Devin Oglesbee, Miao He, Nilanjana Majumder, et al.
American Journal of Medical Genetics. Part A
|
October 31, 2009
Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing
Adele Schneider, Sachiko Nakagawa, Rosanne Keep, et al.
Page
of 11
Search research articles
Search
Showing results (71-80 of 110) with videos related to
Sort By:
Page
of 11
Molecular Genetics and Metabolism
|
January 24, 2018
Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial
Joel Charrow, Cristina Fraga, Xuefan Gu, et al.
Molecular Genetics and Metabolism
|
December 16, 2014
Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome
Joel Charrow, Tord D Alden, Catherine Ann R Breathnach, et al.
The Journal of Pediatrics
|
January 15, 2004
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations
Joel Charrow, Hans C Andersson, Paige Kaplan, et al.
Journal of the American Society of Nephrology : JASN
|
April 6, 2007
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
Dominique P Germain, Stephen Waldek, Maryam Banikazemi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 17, 2005
Individualization of long-term enzyme replacement therapy for Gaucher disease
Hans C Andersson, Joel Charrow, Paige Kaplan, et al.
American Journal of Medical Genetics. Part A
|
October 11, 2018
Schaaf-Yang syndrome overview: Report of 78 individuals
John McCarthy, Philip J Lupo, Erin Kovar, et al.
American Journal of Medical Genetics. Part A
|
November 24, 2004
The genetics of tethered cord syndrome
Alexander G Bassuk, David Craig, Ali Jalali, et al.
The Journal of Pediatrics
|
July 22, 2017
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
Barbara K Burton, Joel Charrow, George E Hoganson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 17, 2007
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency
Devin Oglesbee, Miao He, Nilanjana Majumder, et al.
American Journal of Medical Genetics. Part A
|
October 31, 2009
Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing
Adele Schneider, Sachiko Nakagawa, Rosanne Keep, et al.
Page
of 11