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Eva Morava

Showing results (201-210 of 355) with videos related to

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Molecular Genetics and Metabolism|February 19, 2026
Albumin as a glycoprotein biomarker in congenital disorders of glycosylationKishore Garapati, Anu Jain, Neha Joshi, et al.
Cells|April 13, 2026
Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported <i>UQCRC2</i>-Associated PhenotypeGraeme Preston, Ibrahim Shammas, Filippo Pinto E Vairo, et al.
Journal of Inherited Metabolic Disease|September 1, 2022
TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levelsEwout Muylle, Huafang Jiang, Christin Johnsen, et al.
Molecular Genetics and Metabolism|June 11, 2014
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1Björn Fischer, Bert Callewaert, Phillipe Schröter, et al.
American Journal of Medical Genetics. Part A|September 26, 2024
Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic ParaplegiaAisling Quinlan, Lance Rodan, Elizabeth Barkoudah, et al.
Annals of Clinical and Translational Neurology|October 31, 2014
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defectsRosa Ferriero, Audrey Boutron, Michele Brivet, et al.
Orphanet Journal of Rare Diseases|January 8, 2021
Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-upRodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, et al.
Cell Reports|November 19, 2024
O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorderCourtney Matheny-Rabun, Sneha S Mokashi, Silvia Radenkovic, et al.
Molecular Genetics and Metabolism|May 1, 2022
Patient-reported outcomes and quality of life in PMM2-CDGAnna N Ligezka, Anab Mohamed, Carlota Pascoal, et al.
Frontiers in Genetics|November 3, 2022
Case report: Functional characterization of a <i>de novo</i> c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolonRoberta Salinas-Marín, Yoshiko Murakami, Carlos Alberto González-Domínguez, et al.
Pageof 36

Showing results (201-210 of 355) with videos related to

Sort By:
Pageof 36
Molecular Genetics and Metabolism|February 19, 2026
Albumin as a glycoprotein biomarker in congenital disorders of glycosylationKishore Garapati, Anu Jain, Neha Joshi, et al.
Cells|April 13, 2026
Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported <i>UQCRC2</i>-Associated PhenotypeGraeme Preston, Ibrahim Shammas, Filippo Pinto E Vairo, et al.
Journal of Inherited Metabolic Disease|September 1, 2022
TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levelsEwout Muylle, Huafang Jiang, Christin Johnsen, et al.
Molecular Genetics and Metabolism|June 11, 2014
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1Björn Fischer, Bert Callewaert, Phillipe Schröter, et al.
American Journal of Medical Genetics. Part A|September 26, 2024
Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic ParaplegiaAisling Quinlan, Lance Rodan, Elizabeth Barkoudah, et al.
Annals of Clinical and Translational Neurology|October 31, 2014
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defectsRosa Ferriero, Audrey Boutron, Michele Brivet, et al.
Orphanet Journal of Rare Diseases|January 8, 2021
Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-upRodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, et al.
Cell Reports|November 19, 2024
O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorderCourtney Matheny-Rabun, Sneha S Mokashi, Silvia Radenkovic, et al.
Molecular Genetics and Metabolism|May 1, 2022
Patient-reported outcomes and quality of life in PMM2-CDGAnna N Ligezka, Anab Mohamed, Carlota Pascoal, et al.
Frontiers in Genetics|November 3, 2022
Case report: Functional characterization of a <i>de novo</i> c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolonRoberta Salinas-Marín, Yoshiko Murakami, Carlos Alberto González-Domínguez, et al.
Pageof 36