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

D J Lefeber

Showing results (11-20 of 29) with videos related to

Pageof 3
Sort By:
Journal of Inherited Metabolic Disease|April 26, 2007
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfallsM Adamowicz, R Płoski, D Rokicki, et al.
The British Journal of Ophthalmology|November 21, 2008
Ophthalmological abnormalities in children with congenital disorders of glycosylation type IE Morava, H N Wosik, J Sykut-Cegielska, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 19, 2019
Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometryE A Barbosa, N do C Fontes, S C L Santos, et al.
Clinical Neuropathology|February 24, 2010
Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathyN C Voermans, M Guillard, R Doedée, et al.
Journal of Neurology|August 19, 2007
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screeningS Vermeer, H P H Kremer, Q H Leijten, et al.
Clinical Genetics|May 8, 2010
Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutationsJ M Drijvers, D J Lefeber, S A de Munnik, et al.
Clinical and Experimental Immunology|December 22, 2020
Mimicking Behçet's disease: GM-CSF gain of function mutation in a family suffering from a Behçet's disease-like disorder marked by extreme pathergyB Rösler, B Heinhuis, X Wang, et al.
JIMD Reports|June 5, 2013
Socio-emotional Problems in Children with CDGK F E van de Loo, L van Dongen, M Mohamed, et al.
Journal of Medical Genetics|December 13, 2006
Congenital disorder of glycosylation type Ia presenting with hydrops fetalisJ M van de Kamp, D J Lefeber, G J G Ruijter, et al.
Neuromuscular Disorders : NMD|August 15, 2017
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophyP Y K Van den Bergh, Y Sznajer, V Van Parys, et al.
Pageof 3

Showing results (11-20 of 29) with videos related to

Sort By:
Pageof 3
Journal of Inherited Metabolic Disease|April 26, 2007
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfallsM Adamowicz, R Płoski, D Rokicki, et al.
The British Journal of Ophthalmology|November 21, 2008
Ophthalmological abnormalities in children with congenital disorders of glycosylation type IE Morava, H N Wosik, J Sykut-Cegielska, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 19, 2019
Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometryE A Barbosa, N do C Fontes, S C L Santos, et al.
Clinical Neuropathology|February 24, 2010
Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathyN C Voermans, M Guillard, R Doedée, et al.
Journal of Neurology|August 19, 2007
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screeningS Vermeer, H P H Kremer, Q H Leijten, et al.
Clinical Genetics|May 8, 2010
Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutationsJ M Drijvers, D J Lefeber, S A de Munnik, et al.
Clinical and Experimental Immunology|December 22, 2020
Mimicking Behçet's disease: GM-CSF gain of function mutation in a family suffering from a Behçet's disease-like disorder marked by extreme pathergyB Rösler, B Heinhuis, X Wang, et al.
JIMD Reports|June 5, 2013
Socio-emotional Problems in Children with CDGK F E van de Loo, L van Dongen, M Mohamed, et al.
Journal of Medical Genetics|December 13, 2006
Congenital disorder of glycosylation type Ia presenting with hydrops fetalisJ M van de Kamp, D J Lefeber, G J G Ruijter, et al.
Neuromuscular Disorders : NMD|August 15, 2017
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophyP Y K Van den Bergh, Y Sznajer, V Van Parys, et al.
Pageof 3