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of Nicolae Testemitanu State University of Medicine and Pharmacy
of the Republic of Moldova
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Results 1-10 of 13 (Search time: 0.004 seconds).
Item hits:
Issue DateTitleAuthor(s)
2020Phenotype prediction in phenylketonuria patients from Moldova based on genotype dataScurtul, Maria; Boiciuc, Chiril; Blăniță, Daniela; Sacară, Victoria; Ușurelu, Natalia
2020Spinal muscular atrophy: news and perspectivesColiban, Iulia; Revenco, Ninel; Țurcan, Doina; Egorov, Vladimir; Ușurelu, Natalia; Sacară, Victoria
2020Challenges in clinical considerations for congenital disorders of glycosylationBlăniță, Daniela; Boiciuc, Chiril; Samohvalov, Elena; Sacară, Victoria; Barbova, Natalia; Hadjiu, Svetlana; Țurea, Valentin; Stamati, Adela; Nicolescu, Alina; Deleanu, Calin; Lefeber, Dirk; Morava, Eva; Ușurelu, Natalia
2020Methodological approaches in the molecular genetic analysis of mitochondrial DNA in patients with common clinical features of mitochondrial diseaseȚurcan, Doina; Blăniță, Daniela; Ușurelu, Natalia; Sacară, Victoria
2021The challenge in diagnosis of congenital disorders of glycosylation versus mitochondrial disorders: case reportBlăniță, Daniela; Boiciuc, Chiril; Țurcan, Doina; Sacară, Victoria; Țurea, Valentin; Stamati, Adela; Hadjiu, Svetlana; Lefeber, Dirk; Morava, Eva; Ușurelu, Natalia
2021X-Linked Adrenoleukodystrophy in Republic of Moldova: case reportBlăniță, Daniela; Sacară, Victoria; Railean, Gheorghe; Stamati, Adela; Garaeva, Svetlana; Postolachi, Galina; Hoffmann, George Franz; Steinfeld, Robert; Ușurelu, Natalia
2021Multisystem affection in child: NARP syndrome – mitochondrial disease (case presentation)Blăniță, Daniela; Țurcan, Doina; Garaeva, Svetlana; Postolati, Galina; Sacară, Victoria; Wevers, Ron; Rodenburg, Richard; Ușurelu, Natalia
2021A rare mitochondrial disorder: Leigh syndrome – a case reportȚurcan, Doina; Ușurelu, Natalia; Blăniță, Daniela; Sacară, Victoria
2021Determination of deletion carrier of exon 7 of the SMN1 gene by the qPCR methodColiban, Iulia; Uşurelu, Natalia; Revenco, Ninel; Sacară, Victoria
2021Classical galactosemia - a case reportScurtul, Maria; Boiciuc, Chiril; Blăniță, Daniela; Sacară, Victoria; Tarcomnicu, Isabela; Stambouli, Danae; Nicolescu, Alina; Deleanu, Calin; Gladun, Sergiu; Ușurelu, Natalia

 

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