Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Bryan Winchester

Showing results (11-20 of 22) with videos related to

Pageof 3
Sort By:
Journal of Proteome Research|March 8, 2013
The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patientsVictoria Manwaring, Wendy E Heywood, Robert Clayton, et al.
Molecular Genetics and Metabolism|June 28, 2005
Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometryTeruo Kitagawa, Nobuyuki Ishige, Ken Suzuki, et al.
Human Mutation|May 18, 2004
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III ANicole Muschol, Stephan Storch, Diana Ballhausen, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 16, 2006
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type IIFrançois Foulquier, Eliza Vasile, Els Schollen, et al.
Proteomics|March 23, 2006
Diagnosis of congenital disorders of glycosylation type-I using protein chip technologyKevin Mills, Philippa Mills, Marie Jackson, et al.
Human Molecular Genetics|January 16, 2007
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formationFrançois Foulquier, Daniel Ungar, Ellen Reynders, et al.
Molecular Genetics and Metabolism|February 1, 2003
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patientsUrsula Matte, Gouri Yogalingam, Doug Brooks, et al.
The International Journal of Biochemistry & Cell Biology|April 1, 2017
Origin of α-mannosidase activity in CSFAnna Tasegian, Silvia Paciotti, Maria Rachele Ceccarini, et al.
Lancet (London, England)|November 22, 2005
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective studyArndt Rolfs, Tobias Böttcher, Marlies Zschiesche, et al.
American Journal of Medical Genetics. Part A|April 28, 2009
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA proteinAlzbeta Vazna, Clare Beesley, Linda Berna, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Journal of Proteome Research|March 8, 2013
The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patientsVictoria Manwaring, Wendy E Heywood, Robert Clayton, et al.
Molecular Genetics and Metabolism|June 28, 2005
Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometryTeruo Kitagawa, Nobuyuki Ishige, Ken Suzuki, et al.
Human Mutation|May 18, 2004
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III ANicole Muschol, Stephan Storch, Diana Ballhausen, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 16, 2006
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type IIFrançois Foulquier, Eliza Vasile, Els Schollen, et al.
Proteomics|March 23, 2006
Diagnosis of congenital disorders of glycosylation type-I using protein chip technologyKevin Mills, Philippa Mills, Marie Jackson, et al.
Human Molecular Genetics|January 16, 2007
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formationFrançois Foulquier, Daniel Ungar, Ellen Reynders, et al.
Molecular Genetics and Metabolism|February 1, 2003
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patientsUrsula Matte, Gouri Yogalingam, Doug Brooks, et al.
The International Journal of Biochemistry & Cell Biology|April 1, 2017
Origin of α-mannosidase activity in CSFAnna Tasegian, Silvia Paciotti, Maria Rachele Ceccarini, et al.
Lancet (London, England)|November 22, 2005
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective studyArndt Rolfs, Tobias Böttcher, Marlies Zschiesche, et al.
American Journal of Medical Genetics. Part A|April 28, 2009
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA proteinAlzbeta Vazna, Clare Beesley, Linda Berna, et al.
Pageof 3