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Browsing by Author Ușurelu, Natalia

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Showing results 7 to 26 of 32 < previous   next >
Issue DateTitleAuthor(s)
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
2023Modificările profilului aminoacizilor cu lanț ramificat în obezitatea primară la copii și adolescențiMunteanu, Diana; Ușurelu, Natalia; Vudu, Lorina
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
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
2020Phenotype prediction in phenylketonuria patients from Moldova based on genotype dataScurtul, Maria; Boiciuc, Chiril; Blăniță, Daniela; Sacară, Victoria; Ușurelu, Natalia
2021A rare mitochondrial disorder: Leigh syndrome – a case reportȚurcan, Doina; Ușurelu, Natalia; Blăniță, Daniela; Sacară, Victoria
2021The screening of congenital disorders of glycosylation by isoelectrofocusing of transferrineBlăniță, Daniela; Boiciuc, Chiril; Morava, Eva; Lefeber, Dirk; Ușurelu, Natalia

 

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