DSpace Repository

DSpace is a digital service that collects, preserves, and distributes digital material. Repositories are important tools for preserving an organization's legacy; they facilitate digital preservation and scholarly communication.

Communities in DSpace

Recently Added

  • Microarn-urile: noi perspective în distrofia musculară Duchenne 
    Rodoman, Iulia; Dorif, Alexandr; Palii, Ina; Sacară, Victoria (Instituţia Medico-Sanitară Publică Institutul Mamei și Copilului, 2025)
    Introduction. Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration. Recent studies suggest that certain microRNAs (miRNAs) may serve as biomarkers for diagnosis and ...
  • Abordare integrată în diagnosticul maladiilor neurodegenerative pediatrice: caz clinic 
    Condrea, Alexandra; Railean, Gheorghe; Sacară, Victoria (Instituţia Medico-Sanitară Publică Institutul Mamei și Copilului, 2025)
    Introduction: Neurodegenerative diseases with pediatric onset are rare conditions characterized by progressive impairment of the central nervous system, significantly impacting patients’ quality of life. Their diagnosis ...
  • Screening-ul familial la pacienții cu boala Wilson din Republica Moldova 
    Cumpătă, Veronica; Sacară, Victoria; Țurcanu, Adela (Instituţia Medico-Sanitară Publică Institutul Mamei și Copilului, 2025)
    Introduction. Wilson’s disease (WD) is a rare genetic disorder with autosomal recessive inheritance. International associations recommend family screening, including the examination of first-degree relatives of the proband ...
  • Screening-ul selectiv al dereglărilor congenitale ale glicozilării, bazat pe analiza IEF a transferinei serice 
    Boiciuc, Chiril; Blăniță, Daniela; Huijben, Karin; Lefeber, Dirk; Ușurelu, Natalia (Instituţia Medico-Sanitară Publică Institutul Mamei și Copilului, 2025)
    Introduction: Congenital disorders of glycosylation (CDG) represent a group of genetic diseases affecting the synthesis and assembly of carbohydrate on protein or lipid molecules. First described in 1980 by Prof. J. Jaeken, ...
  • Studiile populaționale ale bolilor de expansie a repetărilor scurte 
    Dorif, Alexandr; Sacară, Victoria (Instituţia Medico-Sanitară Publică Institutul Mamei și Copilului, 2025)
    Introduction: Short tandem repeats (STR) were once considered completely harmless genomic elements. However, it was shown that some diseases including Huntington’s disease, Friedreich ataxia and fragile X syndrome are caused ...

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