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SUMPh)
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Results 1-10 of 12 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
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
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
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
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
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
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
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
2022
Challenges in diagnosis of mitochondrial disorders: case reports
Secu, Doina
;
Ușurelu, Natalia
;
Blăniță, Daniela
;
Hlistun, Victoria
;
Secu, Gheorghe
;
Sacară, Victoria
Discover
Author
12
Ușurelu, Natalia
9
Sacară, Victoria
5
Boiciuc, Chiril
4
Nicolescu, Alina
4
Stamati, Adela
4
Țurcan, Doina
3
Deleanu, Calin
3
Garaeva, Svetlana
3
Hlistun, Victoria
3
Lefeber, Dirk
.
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Subject
2
ADN mitocondrial
2
CDG
2
mitochondrial disease
1
adrenals insufficiency
1
afectare multisistemică
1
ARMS-qPCR
1
BIOPKU
1
boală mitocondrială
1
classical galactosemia
1
comă
.
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Date issued
6
2020
5
2021
1
2022
Has File(s)
12
true
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