Showing results 1 to 20 of 32
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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 |
2022 | Determinarea creatininei urinare la pacienții cu alcaptonurie | Hlistun, Victoria; Casian, Igor; Casian, Ana; Deleanu, Calin; Nicolescu, Alina; Ușurelu, 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 |
2020 | Diagnosis of inborn metabolic disorders assisted by NMR spectroscopy – recent cases from Institute of Mother and Child Chisinau | Nicolescu, Alina; Revenco, Ninel; Gladun, Sergiu; Strătilă, Mihail; Ușurelu, Natalia; Deleanu, Calin |
2020 | Diagnosis of spinal muscular atrophy through qPCR method | Coliban, Iulia; Ușurelu, Natalia; Revenco, Ninel; Sacară, Victoria |
2020-10 | Diagnosis of spinal muscular atrophy through qPCR method | Coliban, Iulia; Ușurelu, Natalia; Revenco, Ninel; Sacară, Victoria |
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 |
2020 | Introduction into inborn errors of metabolism | 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 |
2021 | The metabolic impact of primary childhood obesity | Munteanu, Diana; Hlistin, Victoria; Rizov, Cristina; Vudu, Lorina; Ușurelu, Natalia |
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 |