Showing results 1 to 20 of 25
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Issue Date | Title | Author(s) |
2021 | The challenge in diagnosis of congenital disorders of glycosylation versus mitochondrial disorders: case report | Blăniță, Daniela; Boiciuc, Chiril; Țurcan, Doina; Sacară, Victoria; Țurea, Valentin; Stamati, Adela; Hadjiu, Svetlana; Lefeber, Dirk; Morava, Eva; Ușurelu, Natalia |
2020 | Challenges in clinical considerations for congenital disorders of glycosylation | Blăniță, 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 |
2022 | Challenges in diagnosis of mitochondrial disorders: case reports | Secu, Doina; Ușurelu, Natalia; Blăniță, Daniela; Hlistun, Victoria; Secu, Gheorghe; Sacară, Victoria |
2021 | Classical galactosemia - a case report | Scurtul, Maria; Boiciuc, Chiril; Blăniță, Daniela; Sacară, Victoria; Tarcomnicu, Isabela; Stambouli, Danae; Nicolescu, Alina; Deleanu, Calin; Gladun, Sergiu; Ușurelu, Natalia |
2020 | Complexity of the diagnosis of Congenital Disorders of Glycosylation | Blăniță, Daniela; Boiciuc, Chiril; Țurea, Valentin; Stamati, Adela; Morava, Eva; Ușurelu, Natalia |
2020-10 | Complexity of the diagnosis of congenital disorders of glycosylation | Blăniță, Daniela; Boiciuc, Chiril; Țurea, Valentin; Stamati, Adela; Morava, Eva; Ușurelu, Natalia |
2018 | Dereglarea metabolismului sfingolipidelor: maladia Krabbe | Blăniță, Daniela; Gorea, Tatiana; Bozadji, Veaceslav; Hadjiu, Svetlana; Oglindă, Ana; Zoltan, Lukacs; Usurelu, Natalia |
2020 | Diagnosis characteristics of congenital disorders of glycosylation of 40 suspected patients from Moldova | Boiciuc, Chiril; Blăniță, Daniela; Samohvalov, Elena; Tagadiuc, Olga; Nicolescu, Alina; Deleanu, Călin; Wevers, Ron; Huijben, Karin; Lefeber, Dirk; Ușurelu, Natalia |
2023 | Hipoplazia pontocerebeloasă provocată de mutație în gena TSEN54 sub masca dereglărilor congenitale ale glicozilării | Blăniță, Daniela; Stamati, Adela; Hadjiu, Svetlana; Țurea, Valentin; Cuniță-Țuțuleanu, Andreea; Ușurelu, Natalia |
2021 | The importance of plasma amino acid profile in the diagnosis of inboorn errors of metabolism | Hlistun, Victoria; Efremov, Egor; Blăniță, Daniela; Boiciuc, Chiril; Ușurelu, Natalia |
2021 | The importance of plasma amino acid profiling in the diagnosis of inborn errors of metabolism | Hlistun, Victoria; Efremov, Egor; Blăniță, Daniela; Boiciuc, Chiril; Ușurelu, Natalia |
2022 | Importanța profilului aminoacizilor plasmatici în diagnosticul erorilor înnăscute de metabolism: studiu prospectiv, analitic | Hlistun, Victoria; Efremov, Egor; Blăniță, Daniela; Boiciuc, Chiril; Deleanu, Calin; Nicolescu, Alina; Ușurelu, Natalia |
2021 | Leigh syndrome: a rare case report | Țurcan, Doina; Ușurelu, Natalia; Blăniță, Daniela; Sacară, Victoria |
2021 | Leigh syndrome: a rare case report | Țurcan, Doina; Ușurelu, Natalia; Blăniță, Daniela; Sacară, Victoria |
2020 | Methodological approaches in the molecular genetic analysis of mitochondrial DNA in patients with common clinical features of mitochondrial disease | Țurcan, Doina; Blăniță, Daniela; Ușurelu, Natalia; Sacară, Victoria |
2020 | Molecular genetics in Phenylketonuria in Republic of Moldova (2018- 2019) | Scurtul, Maria; Boiciuc, Chiril; Blăniță, Daniela; Croitori, Tamara; Lazari, Nicoleta |
2021 | Multisystem 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 |
2020 | Nonketotic hyperglycinemia – case report | Hlistun, Victoria; Blăniță, Daniela; Lupu, Victoria; Golub, Natalia; Oglinda, Ana; Garaeva, Svetlana; Postolati, Galina; Tarcomnicu, Isabela; Stambouli, Danae; Nicolescu, Alina; Deleanu, Calin; Ușurelu, Natalia |
2020 | Phenotype prediction in phenylketonuria patients from Moldova based on genotype data | Scurtul, Maria; Boiciuc, Chiril; Blăniță, Daniela; Sacară, Victoria; Ușurelu, Natalia |
2021 | A rare mitochondrial disorder: Leigh syndrome – a case report | Țurcan, Doina; Ușurelu, Natalia; Blăniță, Daniela; Sacară, Victoria |