IBN
Închide

24Publicaţii

144Descărcări

8817Vizualizări

Blăniţă Daniela
Cuvinte-cheie (121): CDG (3), screening neonatal (3), fenilcetonurie (3)
Dinamica numărului de publicaţii pe ani
Dinamica articolelor pe ani
Distribuirea numărului de pagini publicate pe categorii de reviste și ani
Distribuirea articolelor pe domenii şi ani
Colaborarea autorului
Dinamica descărcărilor pe ani
Scopus Author ID

Articole în reviste din RM - 16. Publicaţii la conferinţe din RM - 7. Publicaţii peste hotare - 1.
XLS PDF DOC
SM ISO690:2012

2021 - 10

A rare mitochondrial disorder: Leigh syndrome – a case report
Ţurcan Doina, Uşurelu Natalia, Blăniţă Daniela, Sakara Viktoria K.
Institute of Mother and Child
Buletin de Perinatologie
Nr. 1(90) / 2021 / ISSN 1810-5289
Disponibil online 6 September, 2021. Descarcări-2. Vizualizări-82
-----------------------------------------------------------------------------------------------------------------------------------
Amino acids profile in the diagnosis of inborn errors of metabolism
Hlistun Victoria1, Efremov Egor1, Blăniţă Daniela1, Boiciuc Chiril1, Munteanu Diana1, Lupu Victoria1, Oglinda Ana1, Casian Ana2, Casian Igor2, Nicolescu Alina Florica34, Deleanu Călin43, Uşurelu Natalia1
1 Institute of Mother and Child,
2 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
3 “Petru Poni” Institute of Macromolecular Chemistry,
4 "C.D. Nenitzescu" Centre of Organic Chemistry, Romanian Academy
Buletin de Perinatologie
Nr. 1(90) / 2021 / ISSN 1810-5289
Disponibil online 6 September, 2021. Descarcări-3. Vizualizări-55
-----------------------------------------------------------------------------------------------------------------------------------
Classical galactosemia- a case report
Scurtul Maria1, Boiciuc Chiril1, Blăniţă Daniela1, Sakara Viktoria K.1, Tarcomnicu Isabela2, Stambouli Danae2, Nicolescu Alina Florica3, Deleanu Călin34, Gladun Sergiu1, Uşurelu Natalia1
1 Institute of Mother and Child,
2 Cytogenomic Medical Laboratory,
3 “Petru Poni” Institute of Macromolecular Chemistry,
4 "C.D. Nenitzescu" Centre of Organic Chemistry, Romanian Academy
Buletin de Perinatologie
Nr. 1(90) / 2021 / ISSN 1810-5289
Disponibil online 6 September, 2021. Descarcări-12. Vizualizări-97
-----------------------------------------------------------------------------------------------------------------------------------
Congenital disorders of glycosylation: a booming chapter in pediatric genetics
Blăniţă Daniela1, Boiciuc Chiril1, Morava Eva2, Uşurelu Natalia1
1 Institute of Mother and Child,
2 Tulane University School of Medicine
International Congress of Geneticists and Breeders from the Republic of Moldova
Ediția 11. 2021. Chișinău, Republica Moldova. ISBN 978-9975-933-56-8.
Disponibil online 15 June, 2021. Descarcări-6. Vizualizări-209
-----------------------------------------------------------------------------------------------------------------------------------
Leigh syndrome in a child – a case report
Ţurcan Doina, Uşurelu Natalia, Blăniţă Daniela, Sakara Viktoria K.
Institute of Mother and Child
International Congress of Geneticists and Breeders from the Republic of Moldova
Ediția 11. 2021. Chișinău, Republica Moldova. ISBN 978-9975-933-56-8.
Disponibil online 16 June, 2021. Descarcări-5. Vizualizări-206
-----------------------------------------------------------------------------------------------------------------------------------
Multisystem affection in child: NARP syndrome – mitochondrial disease (case presentation)
Blăniţă Daniela1, Ţurcan Doina1, Garaeva Svetlana2, Postolati Galina2, Sakara Viktoria K.1, Wevers Ron3, Rodenburg Richard3, Uşurelu Natalia1
1 Institute of Mother and Child,
2 Institute of Physiology and Sanocreatology,
3 Radboud University
Buletin de Perinatologie
Nr. 1(90) / 2021 / ISSN 1810-5289
Disponibil online 6 September, 2021. Descarcări-5. Vizualizări-63
-----------------------------------------------------------------------------------------------------------------------------------
N-glycosylation of proteins: interference between physiology and pathology
Boiciuc Chiril1, Blăniţă Daniela1, Hlistun Victoria1, Leferber Dirk2, Uşurelu Natalia1
1 Institute of Mother and Child,
2 Radboud University Nijmegen Medical Centre, Nijmegen
International Congress of Geneticists and Breeders from the Republic of Moldova
Ediția 11. 2021. Chișinău, Republica Moldova. ISBN 978-9975-933-56-8.
Disponibil online 15 June, 2021. Descarcări-1. Vizualizări-263
-----------------------------------------------------------------------------------------------------------------------------------
SMA linked to unbalanced genomic changes: case report
Coliban Iulia, Blăniţă Daniela, Opalco Igor, Gladun Sergiu, Sakara Viktoria K., Uşurelu Natalia
Institute of Mother and Child
International Congress of Geneticists and Breeders from the Republic of Moldova
Ediția 11. 2021. Chișinău, Republica Moldova. ISBN 978-9975-933-56-8.
Disponibil online 15 June, 2021. Descarcări-3. Vizualizări-126
-----------------------------------------------------------------------------------------------------------------------------------
The challenge in diagnosis of congenital disorders of glycosylation versus mitochondrial disorders: case report
Blăniţă Daniela1, Boiciuc Chiril1, Ţurcan Doina1, Sakara Viktoria K.1, Tsurya Valentin2, Stamati Adela2, Hadjiu Svetlana2, Lefeber Dirk3, Morava Eva4, Uşurelu Natalia1
1 Institute of Mother and Child,
2 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
3 Radboud University,
4 Tulane University School of Medicine
Buletin de Perinatologie
Nr. 1(90) / 2021 / ISSN 1810-5289
Disponibil online 6 September, 2021. Descarcări-2. Vizualizări-77
-----------------------------------------------------------------------------------------------------------------------------------
X-linked adrenoleukodystrophy in Republic of Moldova: case report
Blăniţă Daniela1, Sakara Viktoria K.1, Railean Gheorghe1, Stamati Adela2, Garaeva Svetlana3, Postolachi Galina3, Hoffmann George Franz4, Steinfeld Robert5, Uşurelu Natalia1
1 Institute of Mother and Child,
2 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
3 Institute of Physiology and Sanocreatology,
4 University Childrens Hospital, Heidelberg,
5 University Pediatric Department from Göttingen
Buletin de Perinatologie
Nr. 1(90) / 2021 / ISSN 1810-5289
Disponibil online 6 September, 2021. Descarcări-4. Vizualizări-60
-----------------------------------------------------------------------------------------------------------------------------------

2020 - 9

Challenges in clinical considerations for congenital disorders of glycosylation
Blăniţă Daniela1, Boiciuc Chiril1, Samohvalov Elena2, Sakara Viktoria K.1, Barbova Natalia1, Hadjiu Svetlana2, Tsurya Valentin2, Stamati Adela2, Nicolescu Alina Florica3, Deleanu Călin34, Lefeber Dirk5, Morava Eva6, Uşurelu Natalia1
1 Institute of Mother and Child,
2 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
3 "C.D. Nenitzescu" Centre of Organic Chemistry, Romanian Academy,
4 “Petru Poni” Institute of Macromolecular Chemistry,
5 Radboud University,
6 Tulane University School of Medicine
Buletin de Perinatologie
Nr. 1(86) / 2020 / ISSN 1810-5289
Disponibil online 7 September, 2020. Descarcări-16. Vizualizări-932
-----------------------------------------------------------------------------------------------------------------------------------
Complexitatea diagnosticului dereglărilor congenitale ale glicozilării
Blăniţă Daniela1, Boiciuc Kiril1, Ţurea Valentin2, Stamati Adela2, Morava Eva3, Uşurelu Natalia1
1 IMSP Institutul Mamei şi Copiluluii,
2 Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“,
3 Mayo Clinic, Rochestr
Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”
2020. Chişinău. .
Disponibil online 4 April, 2021. Descarcări-2. Vizualizări-78
-----------------------------------------------------------------------------------------------------------------------------------
Diagnosis characteristics of congenital disorders of glycosylation of 40 suspected patients from Moldova
Boiciuc Chiril1, Blăniţă Daniela1, Samohvalov Elena2, Tagadiuc Olga2, Nicolescu Alina Florica34, Deleanu Călin43, Wevers Ron5, Huijben Karin5, Lefeber Dirk5, Uşurelu Natalia1
1 Institute of Mother and Child,
2 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
3 “Petru Poni” Institute of Macromolecular Chemistry,
4 "C.D. Nenitzescu" Centre of Organic Chemistry, Romanian Academy,
5 Radboud University
Buletin de Perinatologie
Nr. 1(86) / 2020 / ISSN 1810-5289
Disponibil online 8 September, 2020. Descarcări-10. Vizualizări-670
-----------------------------------------------------------------------------------------------------------------------------------
Methodological approaches in the molecular genetic analysis of mitochondrial DNA in patients with common clinical features of mitochondrial disease
Ţurcan Doina, Blăniţă Daniela, Uşurelu Natalia, Sakara Viktoria K.
Institute of Mother and Child
Buletin de Perinatologie
Nr. 1(86) / 2020 / ISSN 1810-5289
Disponibil online 8 September, 2020. Descarcări-2. Vizualizări-1216
-----------------------------------------------------------------------------------------------------------------------------------
Molecular genetics in phenylketonuria in Republic of Moldova (2018- 2019)
Scurtul Maria, Boiciuc Chiril, Blăniţă Daniela, Croitori Tamara, Lazari Nicoleta, Uşurelu Natalia
Institute of Mother and Child
Buletin de Perinatologie
Nr. 3(88) / 2020 / ISSN 1810-5289
Disponibil online 30 November, 2020. Descarcări-5. Vizualizări-229
-----------------------------------------------------------------------------------------------------------------------------------
Monitoring Methylmalonic Aciduria by NMR Urinomics
Nicolescu Alina Florica12, Blăniţă Daniela3, Boiciuc Chiril3, Hlistun Victoria3, Cristea Mihaela1, Rotaru Dorina4, Pînzari Ludmila3, Oglinda Ana5, Stamati Adela5, Tarcomnicu Isabela6, Tutulan-Cunita Andreea6, Stambouli Danae6, Gladun Sergiu3, Revenco Ninel5, Uşurelu Natalia3, Deleanu Călin12
1 “Petru Poni” Institute of Macromolecular Chemistry,
2 "C.D. Nenitzescu" Centre of Organic Chemistry, Romanian Academy,
3 Institute of Mother and Child,
4 City Clinical Hospital Nr.1,
5 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
6 Cytogenomic Medical Laboratory
Molecules (Basel, Switzerland)
Nr. 22(25) / 2020 / ISSN - / ISSNe 1420-3049
Disponibil online 26 November, 2020. Descarcări-0. Vizualizări-195
-----------------------------------------------------------------------------------------------------------------------------------
Nonketotic hyperglycinemia – case report
Hlistun Victoria1, Blăniţă Daniela1, Lupu Victoria1, Golub Natalia1, Oglinda Ana1, Garaeva Svetlana2, Postolati Galina2, Tarcomnicu Isabela3, Stambouli Danae3, Nicolescu Alina Florica45, Deleanu Călin54, Uşurelu Natalia1
1 Institute of Mother and Child,
2 Institute of Physiology and Sanocreatology,
3 Cytogenomic Medical Laboratory,
4 "C.D. Nenitzescu" Centre of Organic Chemistry, Romanian Academy,
5 “Petru Poni” Institute of Macromolecular Chemistry
Buletin de Perinatologie
Nr. 1(86) / 2020 / ISSN 1810-5289
Disponibil online 9 September, 2020. Descarcări-18. Vizualizări-345
-----------------------------------------------------------------------------------------------------------------------------------
Phenotype prediction in phenylketonuria patients from Moldova based on genotype data
Scurtul Maria, Boiciuc Chiril, Blăniţă Daniela, Sakara Viktoria K., Uşurelu Natalia
Institute of Mother and Child
Buletin de Perinatologie
Nr. 1(86) / 2020 / ISSN 1810-5289
Disponibil online 8 September, 2020. Descarcări-3. Vizualizări-1131
-----------------------------------------------------------------------------------------------------------------------------------
Specificul molecular genetic în fenilcetonurie în Republica moldova (anii 2018-2019)
Scurtul Maria, Boiciuc Kiril, Blăniţă Daniela, Croitori Tamara, Lazari Nicoleta
IMSP Institutul Mamei şi Copiluluii
Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”
2020. Chişinău. .
Disponibil online 4 April, 2021. Descarcări-4. Vizualizări-67
-----------------------------------------------------------------------------------------------------------------------------------

2018 - 2

Dereglarea metabolismului sfingolipidelor: maladia krabbe
Blăniţă Daniela1, Gorea Tatiana1, Bozadji Veaceslav1, Hadjiu Svetlana1, Oglinda Ana1, Lukacs Zoltan2, Uşurelu Natalia1
1 IMSP Institutul Mamei şi Copiluluii,
2 Centrul Medical Universitar Hamburg-Eppendorf, Hamburg
Buletin de Perinatologie
Nr. 5(81) / 2018 / ISSN 1810-5289
Disponibil online 26 June, 2019. Descarcări-4. Vizualizări-362
-----------------------------------------------------------------------------------------------------------------------------------
1 - 20 of 24