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

Angel Ashikov

Showing results (21-30 of 36) with videos related to

Pageof 4
Sort By:
Neurology|July 23, 2013
Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transportMiski Mohamed, Angel Ashikov, Mailys Guillard, et al.
Clinical Chemistry|August 4, 2019
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular DystrophyWalinka van Tol, Monique van Scherpenzeel, Mohammad Alsady, et al.
Nature Communications|October 29, 2021
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5Peter T A Linders, Eveline C F Gerretsen, Angel Ashikov, et al.
Chemistry & Biology|December 22, 2015
Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-MannosylationMoniek Riemersma, D Sean Froese, Walinka van Tol, et al.
Glycobiology|December 23, 2021
Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogsMonique van Scherpenzeel, Federica Conte, Christian Büll, et al.
International Journal of Molecular Sciences|May 13, 2023
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy HomeostasisFederica Conte, Angel Ashikov, Rachel Mijdam, et al.
The New England Journal of Medicine|January 2, 2009
A syndrome with congenital neutropenia and mutations in G6PC3Kaan Boztug, Giridharan Appaswamy, Angel Ashikov, et al.
Journal of Inherited Metabolic Disease|March 13, 2022
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, et al.
Hepatology (Baltimore, Md.)|March 8, 2020
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver DiseaseMagda Cannata Serio, Laurie A Graham, Angel Ashikov, et al.
American Journal of Human Genetics|February 3, 2016
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationJos C Jansen, Sharita Timal, Monique van Scherpenzeel, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
Neurology|July 23, 2013
Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transportMiski Mohamed, Angel Ashikov, Mailys Guillard, et al.
Clinical Chemistry|August 4, 2019
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular DystrophyWalinka van Tol, Monique van Scherpenzeel, Mohammad Alsady, et al.
Nature Communications|October 29, 2021
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5Peter T A Linders, Eveline C F Gerretsen, Angel Ashikov, et al.
Chemistry & Biology|December 22, 2015
Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-MannosylationMoniek Riemersma, D Sean Froese, Walinka van Tol, et al.
Glycobiology|December 23, 2021
Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogsMonique van Scherpenzeel, Federica Conte, Christian Büll, et al.
International Journal of Molecular Sciences|May 13, 2023
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy HomeostasisFederica Conte, Angel Ashikov, Rachel Mijdam, et al.
The New England Journal of Medicine|January 2, 2009
A syndrome with congenital neutropenia and mutations in G6PC3Kaan Boztug, Giridharan Appaswamy, Angel Ashikov, et al.
Journal of Inherited Metabolic Disease|March 13, 2022
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, et al.
Hepatology (Baltimore, Md.)|March 8, 2020
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver DiseaseMagda Cannata Serio, Laurie A Graham, Angel Ashikov, et al.
American Journal of Human Genetics|February 3, 2016
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationJos C Jansen, Sharita Timal, Monique van Scherpenzeel, et al.
Pageof 4