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Mari-Anne Vals

Showing results (11-20 of 17) with videos related to

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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.
Journal of Inherited Metabolic Disease|December 5, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendationsVeronika Holubova, Rita Barone, Stephanie Grunewald, et al.
Human Mutation|April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDGSander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.
Journal of Inherited Metabolic Disease|January 18, 2023
MOGS-CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub> Man tetrasaccharide and clinical spectrum of six new casesMerel A Post, Isis de Wit, Fokje S M Zijlstra, et al.
Journal of Inherited Metabolic Disease|February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patientsMari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and managementRuqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow upRuqaiah Altassan, Romain Péanne, Jaak Jaeken, et al.
Pageof 2

Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
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.
Journal of Inherited Metabolic Disease|December 5, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendationsVeronika Holubova, Rita Barone, Stephanie Grunewald, et al.
Human Mutation|April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDGSander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.
Journal of Inherited Metabolic Disease|January 18, 2023
MOGS-CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub> Man tetrasaccharide and clinical spectrum of six new casesMerel A Post, Isis de Wit, Fokje S M Zijlstra, et al.
Journal of Inherited Metabolic Disease|February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patientsMari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and managementRuqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow upRuqaiah Altassan, Romain Péanne, Jaak Jaeken, et al.
Pageof 2