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- IRMS - Nicolae Testemitanu SUMPh
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Issue Date | Title | Author(s) | 2020 | Phenotype prediction in phenylketonuria patients from Moldova based on genotype data | Scurtul, Maria; Boiciuc, Chiril; Blăniță, Daniela; Sacară, Victoria; Ușurelu, Natalia |
2020 | Syndromal dislipidemia - case report of a family with Alstrom syndrome | Munteanu, Diana; Hlistun, Victoria; Samohvalov, Elena; Blăniță, Daniela; Stamati, Adela; Vudu, Lorina; 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 |
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 |
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 |
2021 | X-Linked Adrenoleukodystrophy in Republic of Moldova: case report | Blăniță, Daniela; Sacară, Victoria; Railean, Gheorghe; Stamati, Adela; Garaeva, Svetlana; Postolachi, Galina; Hoffmann, George Franz; Steinfeld, Robert; Ușurelu, Natalia |
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 |
2021 | A rare mitochondrial disorder: Leigh syndrome – a case report | Țurcan, Doina; Ușurelu, Natalia; Blăniță, Daniela; 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 | 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 |
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