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You searched for: Author/Creator Morava, Eva

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1. 3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients. Issue 6 (25th January 2013)

3. A new D‐galactose treatment monitoring index for PGM1‐CDG. Issue 5 (22nd June 2021)

5. A novel phosphoglucomutase‐deficient mouse model reveals aberrant glycosylation and early embryonic lethality. Issue 5 (21st June 2019)

7. ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. Issue 5 (10th June 2016)

8. ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines. Issue 5 (30th June 2022)

9. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. Issue 7 (12th May 2017)

10. Chronic fluoxetine or ketamine treatment differentially affects brain energy homeostasis which is not exacerbated in mice with trait suboptimal mitochondrial function. (21st July 2020)