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REVISTE MEDICALE NEINSTITUȚIONALE
Buletin de Perinatologie
Buletin de Perinatologie 2025
Buletin de Perinatologie Nr. 1(95) 2025
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Issue Date
Title
Author(s)
2025
Abordarea tulburărilor congenitale ale glicozilării în asistența pacienților afectați multisistemic
Blăniță, Daniela
;
Boiciuc, Chiril
;
Nicolescu, Alina
;
Sacara, Victoria
;
Ușurelu, Natalia
2025
Evaluare genetică și biochimică la pacienții cu suspecție de boală mitocondrială
Secu, Doina
;
Blăniță, Daniela
;
Ușurelu, Natalia
;
Sacară, Victoria
2025
Screening-ul selectiv al dereglărilor congenitale ale glicozilării, bazat pe analiza IEF a transferinei serice
Boiciuc, Chiril
;
Blăniță, Daniela
;
Huijben, Karin
;
Lefeber, Dirk
;
Ușurelu, Natalia
2025
Variabilitatea clinică și molecular-genetică în fenilcetonurie
Ușurelu, Dan-Cristian
;
Pavlovschi, Ecaterina
;
Boiciuc, Chiril
;
Blăniță, Daniela
;
Ușurelu, Natalia
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Author
4
Ușurelu, Natalia
3
Boiciuc, Chiril
1
Huijben, Karin
1
Lefeber, Dirk
1
Nicolescu, Alina
1
Pavlovschi, Ecaterina
1
Sacara, Victoria
1
Sacară, Victoria
1
Secu, Doina
1
Ușurelu, Dan-Cristian
.
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Subject
1
BH4
1
CDG
1
IEFT
1
mimicking other genetic disorders
1
mitochondrial disease
1
multisystem involvement
1
neonatal screening
1
PAH gene
1
phenylketonuria (PKU)
1
qPCR-HRM analysis
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Date issued
4
2025
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