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inborn errors of metabolism
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MUDr. Jitka Májovská Ph.D.
External person at First Faculty of Medicine
7 publications
Publications
publication
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease
2023 |
First Faculty of Medicine
publication
Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease
2022 |
First Faculty of Medicine
publication
White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis
2021 |
First Faculty of Medicine
publication
Associations between breastfeeding rates and infant disease: A survey of 2338 Czech children
2020 |
First Faculty of Medicine
publication
Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease
2019 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Musculoskeletal involvement in patients with lysosomal storage disease
2019 |
First Faculty of Medicine
publication
The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families
2018 |
First Faculty of Medicine
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