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Browsing by Author Ușurelu, Natalia

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Showing results 1 to 20 of 32  next >
Issue DateTitleAuthor(s)
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
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
2022Challenges in diagnosis of mitochondrial disorders: case reportsSecu, Doina; Ușurelu, Natalia; Blăniță, Daniela; Hlistun, Victoria; Secu, Gheorghe; 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
2020Complexity of the diagnosis of Congenital Disorders of GlycosylationBlăniță, Daniela; Boiciuc, Chiril; Țurea, Valentin; Stamati, Adela; Morava, Eva; Ușurelu, Natalia
2020-10Complexity of the diagnosis of congenital disorders of glycosylationBlăniță, Daniela; Boiciuc, Chiril; Țurea, Valentin; Stamati, Adela; Morava, Eva; Ușurelu, Natalia
2022Determinarea creatininei urinare la pacienții cu alcaptonurieHlistun, Victoria; Casian, Igor; Casian, Ana; Deleanu, Calin; Nicolescu, Alina; 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
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
2020Diagnosis of spinal muscular atrophy through qPCR methodColiban, Iulia; Ușurelu, Natalia; Revenco, Ninel; Sacară, Victoria
2020-10Diagnosis of spinal muscular atrophy through qPCR methodColiban, Iulia; Ușurelu, Natalia; Revenco, Ninel; Sacară, Victoria
2023Hipoplazia pontocerebeloasă provocată de mutație în gena TSEN54 sub masca dereglărilor congenitale ale glicozilăriiBlăniță, Daniela; Stamati, Adela; Hadjiu, Svetlana; Țurea, Valentin; Cuniță-Țuțuleanu, Andreea; Ușurelu, Natalia
2021The importance of plasma amino acid profile in the diagnosis of inboorn errors of metabolismHlistun, Victoria; Efremov, Egor; Blăniță, Daniela; Boiciuc, Chiril; Ușurelu, Natalia
2021The importance of plasma amino acid profiling in the diagnosis of inborn errors of metabolismHlistun, Victoria; Efremov, Egor; Blăniță, Daniela; Boiciuc, Chiril; Ușurelu, Natalia
2022Importanța profilului aminoacizilor plasmatici în diagnosticul erorilor înnăscute de metabolism: studiu prospectiv, analiticHlistun, Victoria; Efremov, Egor; Blăniță, Daniela; Boiciuc, Chiril; Deleanu, Calin; Nicolescu, Alina; Ușurelu, Natalia
2020Introduction into inborn errors of metabolismUșurelu, Natalia
2021Leigh syndrome: a rare case reportȚurcan, Doina; Ușurelu, Natalia; Blăniță, Daniela; Sacară, Victoria
2021Leigh syndrome: a rare case reportȚurcan, Doina; Ușurelu, Natalia; Blăniță, Daniela; Sacară, Victoria
2021The metabolic impact of primary childhood obesityMunteanu, Diana; Hlistin, Victoria; Rizov, Cristina; Vudu, Lorina; 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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