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Results 1-9 of 9 (Search time: 0.003 seconds).
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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
2020Syndromal dislipidemia - case report of a family with Alstrom syndromeMunteanu, Diana; Hlistun, Victoria; Samohvalov, Elena; Blăniță, Daniela; Stamati, Adela; Vudu, Lorina; Ușurelu, Natalia
2020Nonketotic hyperglycinemia – case reportHlistun, Victoria; Blăniță, Daniela; Lupu, Victoria; Golub, Natalia; Oglinda, Ana; Garaeva, Svetlana; Postolati, Galina; Tarcomnicu, Isabela; Stambouli, Danae; Nicolescu, Alina; Deleanu, Calin; Ușurelu, Natalia
2020Diagnosis characteristics of congenital disorders of glycosylation of 40 suspected patients from MoldovaBoiciuc, Chiril; Blăniță, Daniela; Samohvalov, Elena; Tagadiuc, Olga; Nicolescu, Alina; Deleanu, Călin; Wevers, Ron; Huijben, Karin; Lefeber, Dirk; Ușurelu, Natalia
2020Introduction into inborn errors of metabolismUșurelu, Natalia
2020Diagnosis of inborn metabolic disorders assisted by NMR spectroscopy – recent cases from Institute of Mother and Child ChisinauNicolescu, Alina; Revenco, Ninel; Gladun, Sergiu; Strătilă, Mihail; Ușurelu, Natalia; Deleanu, Calin
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

 

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