Raportul dialogal feminin-masculin sau anevoioasa cale a cunoaşterii „Omului din om”

Gherman Oxana

Blăniţă Daniela

Cuvinte-cheie (121): CDG (3), screening neonatal (3), fenilcetonurie (3)


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Articole în reviste din RM - 16. Publicaţii la conferinţe din RM - 7. Publicaţii peste hotare - 1.

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

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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-3. Vizualizări-55

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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-12. Vizualizări-97

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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-6. Vizualizări-209

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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-206

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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-5. 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-1. Vizualizări-263

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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-126

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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-2. Vizualizări-77

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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-4. Vizualizări-60

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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

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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-78

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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

Buletin de Perinatologie

Nr. 1(86) / 2020 / ISSN 1810-5289

Disponibil online 8 September, 2020. Descarcări-10. Vizualizări-670

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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-1216

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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-5. Vizualizări-229

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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-195

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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-345

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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-3. Vizualizări-1131

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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

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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

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24Publicaţii

144Descărcări

8817Vizualizări

2 Afilieri

61 Coautori

5 Reviste

7 Culegeri

2021 - 10

2020 - 9

2018 - 2