dc.contributor.author |
Blăniță, Daniela |
|
dc.contributor.author |
Boiciuc, Chiril |
|
dc.contributor.author |
Țurea, Valentin |
|
dc.contributor.author |
Stamati, Adela |
|
dc.contributor.author |
Morava, Eva |
|
dc.contributor.author |
Ușurelu, Natalia |
|
dc.date.accessioned |
2020-11-11T12:45:24Z |
|
dc.date.available |
2020-11-11T12:45:24Z |
|
dc.date.issued |
2020-10 |
|
dc.identifier.uri |
http://repository.usmf.md/handle/20.500.12710/12881 |
|
dc.description |
IMSP Institutul Mamei și Copilului, Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, Departamentul Pediatrie, Mayo Clinic, SUA, Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină și Farmacie „Nicolae Testemițanu” din Republica Moldova, Ziua internațională a științei pentru pace și dezvoltare |
en_US |
dc.description.abstract |
Introduction: Congenital Glycosylation Disorders (CDG) is a group of pathologies caused by the disorder of the glycosylation process of glycoproteins and glycoconjugates with various disabling multisystem impairment mimicking other pathologies.
Purpose: The implementation of the diagnostic algorithm and identify cases of CDG in the cohort of Moldovan patients.
Material and methods: serum of 40 patients suspected for CDG were analyzed by isoelectric focusing of transferrin (IEFT) and urine by NMR spectroscopy.
Results: The clinical manifestations of the patients were: hypotonia, hepatomegaly, mild hypoglycemia, increased transaminases, abnormal brain MRI, dysmorphic features, failure to thrive and neurological manifestations.
Conclusions: The variety of symptoms in CDG lead to missdiagnosis other pathologies. In the process of diagnosing CDG it is mandatory to exclude secondary abnormalities of glycosylation. |
en_US |
dc.description.uri |
https://stiinta.usmf.md/ro/manifestari-stiintifice/zilele-universitatii |
|
dc.language.iso |
en |
en_US |
dc.publisher |
Universitatea de Stat de Medicină şi Farmacie "Nicolae Testemiţanu" din Republica Moldova |
en_US |
dc.subject |
CDG |
en_US |
dc.subject |
IEFT |
en_US |
dc.subject |
rare disease |
en_US |
dc.title |
Complexity of the diagnosis of congenital disorders of glycosylation |
en_US |
dc.type |
Other |
en_US |