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Browsing by Author Blăniță, Daniela

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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
2018Dereglarea metabolismului sfingolipidelor: maladia KrabbeBlăniță, Daniela; Gorea, Tatiana; Bozadji, Veaceslav; Hadjiu, Svetlana; Oglindă, Ana; Zoltan, Lukacs; Usurelu, 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
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
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
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
2020Molecular genetics in Phenylketonuria in Republic of Moldova (2018- 2019)Scurtul, Maria; Boiciuc, Chiril; Blăniță, Daniela; Croitori, Tamara; Lazari, Nicoleta
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

 

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