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57Publicaţii

455Descărcări

27028Vizualizări

Uşurelu Natalia
Cuvinte-cheie (208): diagnostic (4), genetică moleculară (3), CDG (3)
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Articole în reviste din RM - 38. Publicaţii la conferinţe din RM - 15. Publicaţii peste hotare - 4.
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2021 - 14

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-1. Vizualizări-45
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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-2. Vizualizări-27
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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-8. Vizualizări-65
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Collagen VI related muscle disorder. Ullrich congenital muscular dystrophy. Case report
Sacară Victoria12, Dorif Alexandr1, Uşurelu Natalia13, Holling Tese4, Kubisch Christian4
1 IMSP Institutul Mamei şi Copiluluii,
2 Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“,
3 Centrul Naţional de Sănătate a Reproducerii şi Genetică Medicală,
4 Centrul Medical Universitar Hamburg-Eppendorf, Hamburg
Buletin de Perinatologie
Nr. 1(90) / 2021 / ISSN 1810-5289
Disponibil online 6 September, 2021. Descarcări-1. Vizualizări-199
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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-5. Vizualizări-172
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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-2. Vizualizări-114
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Determination of deletion carrier of exon 7 of the SMN1 gene by the QPCR method
Coliban Iulia, Uşurelu Natalia, Revenco Ninel, Sakara Viktoria K.
Institute of Mother and Child
Buletin de Perinatologie
Nr. 1(90) / 2021 / ISSN 1810-5289
Disponibil online 6 September, 2021. Descarcări-1. Vizualizări-17
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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-5. Vizualizări-177
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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-1. Vizualizări-35
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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-1. Vizualizări-205
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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-114
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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-1. Vizualizări-60
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The metabolic impact of primary childhood obesity
Munteanu Diana1, Hlistun Victoria1, Rizov Cristina2, Vudu Stela2, Uşurelu Natalia1
1 Institute of Mother and Child,
2 ”Nicolae Testemițanu” State University of Medicine and Pharmacy
Buletin de Perinatologie
Nr. 1(90) / 2021 / ISSN 1810-5289
Disponibil online 6 September, 2021. Descarcări-1. Vizualizări-25
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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-3. Vizualizări-52
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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-1559
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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-785
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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-74
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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-662
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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-888
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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-3. Vizualizări-70
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