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48Publicaţii

420Descărcări

22543Vizualizări

Uşurelu Natalia
Cuvinte-cheie (148): fenilcetonurie (3), diagnostic (3), genetică moleculară (2)
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Articole în reviste din RM - 29. Publicaţii la conferinţe din RM - 15. Publicaţii peste hotare - 4.
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2021 - 5

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-2. Vizualizări-76
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Contribution of genetic testing in pediatric dilated cardiomyopathy
Stamati Adela1, Revenco Ninel1, Uşurelu Natalia2
1 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
2 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-0. Vizualizări-64
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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-2. Vizualizări-63
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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-0. Vizualizări-97
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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-51
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2020 - 13

Cardiovascular disorders in Fabry disease
Stamati Adela1, Uşurelu Natalia2, Romanciuc Lilia1, Revenco Ninel12
1 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
2 Institute of Mother and Child
Buletin de Perinatologie
Nr. 1(86) / 2020 / ISSN 1810-5289
Disponibil online 7 September, 2020. Descarcări-5. Vizualizări-1167
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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-562
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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-51
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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-6. Vizualizări-314
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Diagnosis of inborn metabolic disorders assisted by NMR spectroscopy – recent cases from Institute of Mother and Child Chisinau
Nicolescu Alina Florica12, Revenco Ninel34, Gladun Sergiu4, Uşurelu Natalia4, Deleanu Călin21
1 “Petru Poni” Institute of Macromolecular Chemistry,
2 "C.D. Nenitzescu" Centre of Organic Chemistry, Romanian Academy,
3 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
4 Institute of Mother and Child
Buletin de Perinatologie
Nr. 1(86) / 2020 / ISSN 1810-5289
Disponibil online 9 September, 2020. Descarcări-9. Vizualizări-371
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Diagnosticul atrofiei musculare spinale prin metoda qPCR
Coliban Iulia, Uşurelu Natalia, Revenco Ninel, Sacară Victoria
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-0. Vizualizări-60
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Introduction into inborn errors of metabolism
Uşurelu Natalia
Institute of Mother and Child
Buletin de Perinatologie
Nr. 1(86) / 2020 / ISSN 1810-5289
Disponibil online 7 September, 2020. Descarcări-7. Vizualizări-291
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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-563
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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-4. Vizualizări-181
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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-164
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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-297
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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-2. Vizualizări-559
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Spinal muscular atrophy: news and perspectives
Coliban Iulia, Revenco Ninel, Ţurcan Doina, Egorov Vladimir, 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-3. Vizualizări-342
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2019 - 3

Evaluarea vitaminei D la copiii cu obezitate primară
Munteanu Diana12, Hlistun Victoria1, Uşurelu Natalia1, Vudu Lorina2
1 IMSP Institutul Mamei şi Copiluluii,
2 Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“
Sănătate Publică, Economie şi Management în Medicină
Nr. 3(81) / 2019 / ISSN 1729-8687
Disponibil online 18 October, 2019. Descarcări-2. Vizualizări-355
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No clinical utility of common polymorphisms in IGF1, IRS1, GCKR, PPARG, GCK1 and KCTD1 genes previously associated with insulin resistance in overweight children from Romania and Moldova
Chiriţă-Emandi Adela12, Munteanu Diana34, Andreescu Nicoleta Ioana12, Tutac Paul1, Paul Corina12, Velea Iulian Puiu12, Pusztai Agneta Maria1, Hlistun Victoria3, Boiciuc Chiril3, Sakara Viktoria K.3, Vudu Lorina4, Uşurelu Natalia3, Puiu Maria12
1 Victor Babes University of Medicine and Pharmacy,
2 Spitalul Clinic de Urgenta pentru Copii Louis Turcanu, Timisoara,
3 Institute of Mother and Child,
4 ”Nicolae Testemițanu” State University of Medicine and Pharmacy
Journal of Pediatric Endocrinology and Metabolism
Nr. 1(32) / 2019 / ISSN 0334-018X
Disponibil online 1 February, 2019. Descarcări-0. Vizualizări-542
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