Morava-Kozicz, Eva, 1966-
Morava Éva (1966) orvos-genetikus
Morava, E. 1966-
Morava, E. (Eva), 1966-
VIAF ID: 281622246 (Personal)
Permalink: http://viaf.org/viaf/281622246
Preferred Forms
4xx's: Alternate Name Forms (11)
Works
Title | Sources |
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ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing | |
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy | |
Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations | |
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency. | |
Females with PDHA1 gene mutations: a diagnostic challenge. | |
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects. | |
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients | |
Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice | |
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency | |
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? | |
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. | |
Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome. | |
Mitochondrial energy production correlates with the age-related BMI. | |
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. | |
Oral D-galactose supplementation in PGM1-CDG. | |
PMM2-CDG caused by uniparental disomy: Case report and literature review | |
Recognizable phenotypes in CDG | |
Régulation de la O-glycosylation par les ions Ca et Mn : leçons issues de l’étude de TMEM165-CDG et SLC10A7-CDG. | |
Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG | |
Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update |