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Eva Morava

Showing results (251-260 of 355) with videos related to

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Neurology|July 23, 2013
Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transportMiski Mohamed, Angel Ashikov, Mailys Guillard, et al.
The FEBS Journal|November 14, 2018
Propeptide glycosylation and galectin-3 binding decrease proteolytic activation of human proMMP-9/progelatinase BLise Boon, Estefania Ugarte-Berzal, Erik Martens, et al.
Molecular Genetics and Metabolism|March 23, 2025
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomesSanne Verberkmoes, Gina L Mazza, Andrew C Edmondson, et al.
European Journal of Medical Genetics|July 12, 2012
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?Saskia B Wortmann, Michael P Champion, Lambert van den Heuvel, et al.
Cellular and Molecular Life Sciences : CMLS|June 27, 2025
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementationAndrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, et al.
Molecular Genetics and Metabolism|September 14, 2011
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiencySamira Achouitar, Jennifer L Goldstein, Miski Mohamed, et al.
Biochimica Et Biophysica Acta|June 14, 2006
Abnormal glycosylation with hypersialylated O-glycans in patients with SialuriaSuzan Wopereis, Umi M Abd Hamid, Alison Critchley, et al.
Molecular Genetics and Metabolism|April 2, 2024
TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patientJorge Román Corona-Rivera, Iván Martínez-Duncker, Eva Morava, et al.
Biochimica Et Biophysica Acta|July 6, 2010
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiencyUdo F H Engelke, Fokje S M Zijlstra, Fanny Mochel, et al.
Nature Communications|June 21, 2026
Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutationDenisa Hathazi, Camilla Lyons, Daniel Lagos, et al.
Pageof 36

Showing results (251-260 of 355) with videos related to

Sort By:
Pageof 36
Neurology|July 23, 2013
Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transportMiski Mohamed, Angel Ashikov, Mailys Guillard, et al.
The FEBS Journal|November 14, 2018
Propeptide glycosylation and galectin-3 binding decrease proteolytic activation of human proMMP-9/progelatinase BLise Boon, Estefania Ugarte-Berzal, Erik Martens, et al.
Molecular Genetics and Metabolism|March 23, 2025
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomesSanne Verberkmoes, Gina L Mazza, Andrew C Edmondson, et al.
European Journal of Medical Genetics|July 12, 2012
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?Saskia B Wortmann, Michael P Champion, Lambert van den Heuvel, et al.
Cellular and Molecular Life Sciences : CMLS|June 27, 2025
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementationAndrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, et al.
Molecular Genetics and Metabolism|September 14, 2011
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiencySamira Achouitar, Jennifer L Goldstein, Miski Mohamed, et al.
Biochimica Et Biophysica Acta|June 14, 2006
Abnormal glycosylation with hypersialylated O-glycans in patients with SialuriaSuzan Wopereis, Umi M Abd Hamid, Alison Critchley, et al.
Molecular Genetics and Metabolism|April 2, 2024
TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patientJorge Román Corona-Rivera, Iván Martínez-Duncker, Eva Morava, et al.
Biochimica Et Biophysica Acta|July 6, 2010
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiencyUdo F H Engelke, Fokje S M Zijlstra, Fanny Mochel, et al.
Nature Communications|June 21, 2026
Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutationDenisa Hathazi, Camilla Lyons, Daniel Lagos, et al.
Pageof 36