Search research articles
Contact Us
Filters
Showing results (81-90 of 355) with videos related to
Page
of 36
Sort By:
Translational Research : the Journal of Laboratory and Clinical Medicine
|
August 27, 2015
High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation
Monique van Scherpenzeel, Gerry Steenbergen, Eva Morava, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
August 18, 2020
Fulminant Wilson Disease in Children: Recovery After Plasma Exchange Without Transplantation
Renee Proost, David Cassiman, Elena Levtchenko, et al.
Molecular Genetics and Metabolism
|
October 15, 2025
Corrigendum to "Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]"
Andrew C Edmondson, Tomas Honzik, Christina Lam, et al.
Journal of Inherited Metabolic Disease
|
December 15, 2015
Peer review fraud-it's not big and it's not clever
Shamima Rahman, Matthias R Baumgartner, Eva Morava, et al.
ACS Omega
|
September 29, 2025
Resolving Hexose-Phosphates by LC-MS Leads to New Insights in PGM1-CDG Pathophysiology
Karen Driesen, Sam De Craemer, Eva Morava, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2011
Metabolic cutis laxa syndromes
Miski Mohamed, Dorus Kouwenberg, Thatjana Gardeitchik, et al.
Molecular Genetics and Metabolism
|
July 30, 2025
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future
Andrew C Edmondson, Tomáš Honzík, Christina Lam, et al.
Brain, Behavior, & Immunity - Health
|
September 30, 2021
Cerebellar mitochondrial dysfunction and concomitant multi-system fatty acid oxidation defects are sufficient to discriminate PTSD-like and resilient male mice
Graeme Preston, Tim Emmerzaal, Faisal Kirdar, et al.
JIMD Reports
|
January 13, 2017
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency
Grace Stuhrman, Stefanie J Perez Juanazo, Kea Crivelly, et al.
Molecular Genetics and Metabolism
|
May 28, 2024
SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient
Christin Johnsen, Nazi Tabatadze, Silvia Radenkovic, et al.
Page
of 36
Search research articles
Search
Showing results (81-90 of 355) with videos related to
Sort By:
Page
of 36
Translational Research : the Journal of Laboratory and Clinical Medicine
|
August 27, 2015
High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation
Monique van Scherpenzeel, Gerry Steenbergen, Eva Morava, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
August 18, 2020
Fulminant Wilson Disease in Children: Recovery After Plasma Exchange Without Transplantation
Renee Proost, David Cassiman, Elena Levtchenko, et al.
Molecular Genetics and Metabolism
|
October 15, 2025
Corrigendum to "Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]"
Andrew C Edmondson, Tomas Honzik, Christina Lam, et al.
Journal of Inherited Metabolic Disease
|
December 15, 2015
Peer review fraud-it's not big and it's not clever
Shamima Rahman, Matthias R Baumgartner, Eva Morava, et al.
ACS Omega
|
September 29, 2025
Resolving Hexose-Phosphates by LC-MS Leads to New Insights in PGM1-CDG Pathophysiology
Karen Driesen, Sam De Craemer, Eva Morava, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2011
Metabolic cutis laxa syndromes
Miski Mohamed, Dorus Kouwenberg, Thatjana Gardeitchik, et al.
Molecular Genetics and Metabolism
|
July 30, 2025
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future
Andrew C Edmondson, Tomáš Honzík, Christina Lam, et al.
Brain, Behavior, & Immunity - Health
|
September 30, 2021
Cerebellar mitochondrial dysfunction and concomitant multi-system fatty acid oxidation defects are sufficient to discriminate PTSD-like and resilient male mice
Graeme Preston, Tim Emmerzaal, Faisal Kirdar, et al.
JIMD Reports
|
January 13, 2017
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency
Grace Stuhrman, Stefanie J Perez Juanazo, Kea Crivelly, et al.
Molecular Genetics and Metabolism
|
May 28, 2024
SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient
Christin Johnsen, Nazi Tabatadze, Silvia Radenkovic, et al.
Page
of 36