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Annals of Neurology
|
October 15, 2021
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications
Anna N Ligezka, Silvia Radenkovic, Mayank Saraswat, et al.
American Journal of Human Genetics
|
April 16, 2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG
Silvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, et al.
Human Mutation
|
April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.
Molecular Therapy. Methods & Clinical Development
|
February 20, 2020
Novel <i>GAA</i> Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis
Stijn L M In 't Groen, Douglas O S de Faria, Alessandro Iuliano, et al.
Journal of Inherited Metabolic Disease
|
January 18, 2023
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association
Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 7, 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
Willemijn J van Rijt, Emmalie A Jager, Derk P Allersma, et al.
Molecular Genetics and Metabolism
|
July 27, 2025
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study
Sebastian Roesch, Anna O'Sullivan, Stefan Tschani, et al.
Journal of Inherited Metabolic Disease
|
July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Journal of Inherited Metabolic Disease
|
June 12, 2016
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Eva Morava, Vera Tiemes, Christian Thiel, et al.
American Journal of Human Genetics
|
October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
Matthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.
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Search research articles
Search
Showing results (61-70 of 73) with videos related to
Sort By:
Page
of 8
Annals of Neurology
|
October 15, 2021
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications
Anna N Ligezka, Silvia Radenkovic, Mayank Saraswat, et al.
American Journal of Human Genetics
|
April 16, 2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG
Silvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, et al.
Human Mutation
|
April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.
Molecular Therapy. Methods & Clinical Development
|
February 20, 2020
Novel <i>GAA</i> Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis
Stijn L M In 't Groen, Douglas O S de Faria, Alessandro Iuliano, et al.
Journal of Inherited Metabolic Disease
|
January 18, 2023
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association
Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 7, 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
Willemijn J van Rijt, Emmalie A Jager, Derk P Allersma, et al.
Molecular Genetics and Metabolism
|
July 27, 2025
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study
Sebastian Roesch, Anna O'Sullivan, Stefan Tschani, et al.
Journal of Inherited Metabolic Disease
|
July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Journal of Inherited Metabolic Disease
|
June 12, 2016
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Eva Morava, Vera Tiemes, Christian Thiel, et al.
American Journal of Human Genetics
|
October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
Matthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.
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