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Авторски колектив, Мария Иванова, Редки генетични болести в две части, ISBN: 978-619-183-012-1, Издателска къща „Симпелпрес“
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2014
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| Дисертация д-р |
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Мария Борисова Иванова, Проучване на възможностите за метаболомни изследвания за диагностика на органични ацидурии и пероксизомни болести в България чрез газова хроматография с мас-селективна детекция , Медицински университет, София, Ръководител:Проф. д-р Иво Кременски
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2009
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| Научен проект |
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1
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Мария Иванова, “Генетично и биохимично профилиране при български пациенти с болест на Канаван”, МУ-София, 2023-2024, Договор № 175/03.08.2023, по проект с вх.№ 8319/24.11.2022 , Член, Медицински университет -София
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2023
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2
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Мария Иванова, Постигане на оптимална среда за обучение, научни изследвания, иновации и устойчиво развитие на човешкия капитал в сферата на химическите науки: Адаптиране на образованието днес за утрешния ден, Член, Оперативна програма "Наука и образование за интелигентен растеж" (2017-2020), Член,
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2017
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3
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Мария Иванова, Метабономни изследвания при новородени в българската популация, Ръководител, ФНИ, СУ"Кл. Охридски"
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2016
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4
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Мария Иванова, Collaborative Laboratory Integrated Reports (CLIR) - Newborn Screening Transnational Research Network , Член, финансиран от The Eunice Kennedy Shriver National Institute of Child Health and Human Development, USA
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2012
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5
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Мария Иванова, MS/MS Data Project and Laboratory Quality Improvement of NBS by MS/MS (Region 4 Stork), Член, финансиран от The Health Resources and Services Administration (HRSA) and Maternal and Child Health Bureau (MCHB), USA, Номер на договора:Grand U22MC03963
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2011
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6
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Мария Иванова, Диагностика на вродени метаболитни болести в неонаталния период, Член, Медицински университет, София
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1997
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7
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Мария Иванова, Модел на интензивен метаболитен скрининг за диагностика на наслествени болести в детска възраст, Член, МОН- ФОНД "НАУЧНИ ИЗСЛЕДВАНИЯ"
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1997
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| Статия в научно списание |
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1
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Slavena Atemin, Tihomir Todorov, Ivan Tourtourikov, Mariya B. Ivanova, Teodora Chamova, Daniela Avdjieva-Tzavella, Hadil Kathom, Bilyana Georgieva, Velina Guergueltcheva, Irena Bradinova, Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder, Journal of Genetics, vol:102, 2023, doi:https://doi.org/10.1007/s12041-022-01399-2, SCOPUS, SJR (1.4 - 2023), SCOPUS Quartile: Q4 (2023), PhD
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2023
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2
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M. sredkova, Ts. Veleva, T. Delchev, M. Ivanova, D. Avdjieva-Tzavella, A case report of Carbonic Anhydrase VA Deficiency, Journal of Inherited Metabolic Disease, Volume 44, Suppl. 1, November 2021, 2021, Ref, SCOPUS, SJR (1296 - 2021), SCOPUS Quartile: Q1 (2021)
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2021
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3
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Avdjieva-Tzavella D, Kathom H, Ivanova M, Delchev T, Tincheva R, Autism spectrum disorder as a presentation of hyperprolinemia, Journal of Inherited Metabolic Disease, vol:42, issue:1, 2019, pages:326-0, IF (4.036 - 2019), Web of Science Quartile: Q2 (2019), SCOPUS, SJR (1.328 - 2019), SCOPUS Quartile: Q2 (2019)
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2019
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4
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S. Atemin, T. Todorov, M. Ivanova, H. Kathom, D. Avdjieva, V. Mitev, A. Todorova, First genetically proven Arginase deficiency case of Bulgarian Roma origin due to a novel pathogenic splice site variant in the ARG1 gene, European Journal of Human Genetics, vol:27, issue:2, 2019, pages:1834-0, IF (3.657 - 2019), Web of Science Quartile: Q2 (2019), SCOPUS, SJR (0.874 - 2019), SCOPUS Quartile: Q1 (2019)
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2019
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5
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Елеонора Желева, Виолета Йотова, Мария Иванова, Дарина Крумова, Калоян Цочев, Диагноза и лечение на дете с пропионова ацидемия- проблем,колкото близък, толкова и далечен, Варненски медецински форум, том:8, брой:1, 2019, стр.:84-89
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2019
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6
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M. Ivanova, I. Sinigerska, D. Dimitrov, V. Jordanova, Inhereted Errors of Metabolim – Metabolomic Approuch for Diagnosis in Bulgaria, Pediatria, vol:58, issue:4, 2018, pages:6-10, Ref, SCOPUS, SJR (0.1 - ), SCOPUS Quartile: Q4 (2018)
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2018
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7
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Мария Иванова, Ив. Синигерска, Д. Димитров, В. Иорданова, И. Кременски, Вроден
грешки на обмяната. Метаболитна криза- метаболомен подход за диагностика в България
, Практическа педиатрия, том:9, брой:ХХ, 2018, стр.:10-13
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2018
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8
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А. Дашева, Д. Авджиева, И. Литвиненко, А. Кадъм, М. Иванова, Т. Тодоров, А. Тодорова, Р.Тинчева, Лявокамерна некомпактност при брат и сестра със Синдром на Barth с доказана нова мутация в ТАZ гена, Българска кардиология, 2018, стр.:5-11
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2018
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9
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Т. Делчев, Д. Авджиева, А. Кадъм, Мария Иванова, Д. Илиев, Р. Тинчева, Орнитинтранскарбамилазен дефицит. Клиничен случай, Практическа педиатрия, том:9, брой:ХХ, 2018, стр.:24-26
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2018
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10
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Valentin Penchev, Anelia Boueva, Kunka K, Dimitar Roussinov, Reni Tzveova, Mariya Ivanova, Violeta Dimitrova, Ivo Kremensky, Vanio Mitev, Radka Kaneva, A familial case of severe infantile nephronophthisis explained by
oligogenic inheritance, European Journal of Medical Genetics, vol:60, issue:6, 2017, pages:321-325, doi:10.1016/j.ejmg.2017.04.002, IF (2.004 - 2017), Web of Science Quartile: Q3 (2017), SCOPUS, SJR (1.066 - 2017), SCOPUS Quartile: Q1 (2017)
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2017
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11
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D. Avdjieva-Tzavella, H. Kathom, M. Ivanova, R. Tincheva, R. Tincheva, Autism Spectrum Disorder as a First Presentation of Propionic Acidemia, Journal of Inborn Errors of Metabolism and Screening, 2017, pages:17-0, SCOPUS, SJR (0.221 - 2018), SCOPUS Quartile: Q3 (2017)
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2017
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12
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Angelina Mandadzhieva, Daniela Avdzhieva-Tzavella, Tihomir Todorov, Savina Tincheva, Vanya Sinigerska, Mariya Ivanova, Alexey Savov, Vanyo Mitev, Albena Todorova, Wolman Disease in Bulgarian Patients:Selective Genetic Screening in Two Presumable Endemic Regions, American Journal of Molecular Biology, 2017, pages:1047-1053, doi:DOI: 10.4236/ajmb.2017.74013
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2017
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13
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Daniela Avdjieva-Tzavella, Albena Todorova, Hadil Kathom, Maria Ivanova, Iglika Yordanova, Tihomir Todorov, Ivan Litvinenko, Anna Dasheva-Dimitrova, Radka Tincheva, BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE, Genetic counseling (Geneva, Switzerland) , vol:12, issue:27(4), 2016, pages:495-501, doi:DOI: 10.1186/s13023-015-0283-0 MZ, IF (2.36 - 2016), Web of Science Quartile: Q4 (2016), SCOPUS, SJR (0.196 - 2016), SCOPUS Quartile: Q3 (2016)
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2016
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14
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Todorov T, Avdjieva-Tzavella D, Kathom H, Yordanova I, M. Ivanova, Tincheva R, Todorova A, Barth syndrome phenotypically manifested in a heterozygous female carrier, European Journal of Human Genetics, vol:24, issue:E-Supplement 1, 2016, pages:119-0, Ref, IF (4.287 - 2016), Web of Science Quartile: Q1 (2016), SCOPUS, SJR (2.092 - 2016), SCOPUS Quartile: Q1 (2016)
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2016
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15
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Iliyana Pacheva, Ivan Ivanov, Marin Penkov, Daliya Kancheva, Albena Jordanova,, Mariya Ivanova, Creatine Deficiency Syndrome could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, Seizures, and Behavioral Changes, but Normal Structural MRI, Annals of Clinical and Laboratory Science , vol:46, issue:5, 2016, pages:557-561, IF (0.727 - 2016), Web of Science Quartile: Q4 (2016), SCOPUS, SJR (0.367 - 2016), SCOPUS Quartile: Q3 (2016)
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2016
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16
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Kathom, H., Avdjieva-Tzavella, D., Sinigerska, I., Ivanova M, Tacheva, G., Stamatov, D., Bojidarova, M., Litvinenko, I., Tincheva, R., Infantile form of tay-sachs disease (GM2 gangliosidosis) - Case report, Pediatriya, vol:56, issue:2, 2016, pages:30-31, ISBN:954-649-199-3, SCOPUS, SJR (0.1 - 2016), SCOPUS Quartile: Q4 (2016)
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2016
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17
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Vazharova R. V, Balabanski L, Ivanov S, Andonova S, M. B. Ivanova, Sinigerska I, Bradinova I, Josifovska S, Avdjieva-Tzavella D, Hadjidekova S, NGS - promises and obstacles in study of patients with inborn errors of metabolism, European Journal of Human Genetics, vol:24, issue:E-Supplement 1, 2016, pages:144-0, IF (4.287 - 2016), Web of Science Quartile: Q1 (2016), SCOPUS, SJR (2.092 - 2016), SCOPUS Quartile: Q1 (2016)
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2016
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18
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Kadam, A., Avdjieva-Tzavella, D, Andonova, S, M. Ivanova, Tincheva, R, Savov, A, Clinical and genetic characteristics of patients with phenylketonuria in Bulgaria, Pediatria, 2015, Ref
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2015
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19
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Mojca Zerjav Tansek, Urh Groselj, Natalija Angelkova, Dana Anton, Ivo Baric, Maja Djordjevic, Lindita Grimci, Maria Ivanova, Adil Kadam, Vjosa Kotori, Phenylketonuria screening and management in southeastern Europe - Survey results from 11 countries, Orphanet Journal of Rare Diseases , vol:10, issue:1, 2015, pages:68-0, IF (3.96 - 2015), SCOPUS, SJR (1.522 - 2015), SCOPUS Quartile: Q1 (2015), International
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2015
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20
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А. Кадъм ., Д. Авджиева, И. Литвиненко, Мария Иванова, Д. Илиев, Р. Тинчева, Клинични прояви при деца с алиментарен В12 дефицит, Практическа педиатрия, брой:1, 2015, стр.:30-32
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2015
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21
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Ivanova M, Manolova I, Gancheva R, Goycheva P, Kundurzhiev T, Stoilov R, Assessment of quality of life in relation to disease activity, physical function and radiographic spinal structural damage in patients with ankylosing spondylitis. , Journal of the Balkan Tribological Association , vol:20, issue:2, 2014, pages:234-241, ISSN (print):1310-4772 , Ref, Web of Science, IF (0.443 - 2014), SCOPUS, SJR (0.249 - 2014), SCOPUS Quartile: Q3 (2014)
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2014
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22
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D.M. AVDJIEVA-TZAVELLA, M.B. IVANOVA, T.P. TODOROV, A.P. TODOROVA, E.I. PANTELEEVA, S.S. TINCHEVA, E.A. LAZAROVA, H.M. KATHOM, P.G. YANEVA, R.S. TINCHEVA, First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene, Genetic counseling (Geneva, Switzerland), 2014, Ref, Web of Science
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2014
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23
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Ivan S. Ivanov, Dimitar N. Azmanov, Mariya B. Ivanova, Teodora Chamova, Ilyana H. Pacheva, Margarita V. Panova, Sharon Song, Bharti Morar, Ralitsa V. Yordanova, , Fani K. Galabova, Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children., Molecular Genetics and Metabolism, vol:113, issue:1, 2014, pages:76-83, IF (2.625 - 2014), SCOPUS, SJR (1.305 - ), SCOPUS Quartile: Q1 (2014), International
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2014
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24
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Urh Groselj, Mojca Zerjav Tansek, Andraz Smon, Natalija Angelkova, Dana Anton, Ivo Baric, Maja Djordjevic, Lindita Grimci, Maria Ivanova, Adil Kadam, Newborn screening in southeastern Europe, Molecular Genetics and Metabolism , 2014, Ref, Web of Science, в сътрудничество с чуждестранни учени
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2014
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25
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Stamenova Sv, Bojinova V, Stancheva M, Georgiev D, Milanov I, Shokova A, M. Ivanova, Sinigerska I., Simeonov E., Megalencephalic leukoecephalopathy with subcortical cysts: New clinical case from Bulgaria, Bulgarian Neurology, том:14, брой:3, 2013, стр.:154-157
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2013
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26
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D. Tzoneva, V. Guergueltcheva, I. Litvinenko, M. Ivanova, S. Hinev, Sedation for magnetic resonance imaging study in paediatric patients with neurological disorders, Pediatria, том:52, брой:4, 2012, Ref
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2012
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27
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David M. S. McHugh, Cynthia A. Cameron, Jose E. Abdenur, Mahera Abdulrahman, Ona Adair, Shahira Ahmed Al Nuaimi, Henrik Åhlman, Jennifer J. Allen, Italo Antonozzi, Maria Ivanova, Clinical validation of cutoff target ranges in newborn
screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project, Genetics in Medicine, vol:13, issue:3, 2011, pages:230-254, Ref, International
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2011
|
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28
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M. Ivanova, I. Bradinova, R. Vajarova, D. Dimitrov, I. Sinigerska, I. Kremenski, Hyperammonemia - Urea cycle disorders, diagnostic aproach, Pediatriya, том:51, брой:1, 2011, Ref
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2011
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29
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I. Singerska, R. Vajarova, I. Bradinova, M. Ivanova, I. Hasanova, I. Kremensky, Laboratory approach to lysosomal storage diseases diagnostics, Pediatriya, том:51, брой:1, 2011, Ref
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2011
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30
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И. Синигерска, Р. Въжарова, И. Брадинова, М. Иванова, И. Хасанова, И. Кременски, Лабораторен подход за диагностика на лизозомни болести на натрупването, Педиатрия, том:LI, брой:1, 2011
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2011
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31
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R. Vajarova, I. Bradinova, A. Savov, S. Bichev, I. Sinigerska, M. Ivanova, I. Kremenski, Current tools for genetic diagnosis in idiopathic mental retardation, Pediatriya, том:50, брой:1, 2010, Ref
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2010
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32
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Kremenski I., R. Vajarova, I. Brandinova, M. Ivanova, I. Sinigerska, D. Dimitrov, A. Savov, S. Bichev, S. Adonova, Current tools for screening and diagnosis of inborn errors of metabolism, Pediatriya, том:50, 2010, Ref
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2010
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33
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Ivanova M, Atanassova, Stoyanka Slavcheva, Panchev, P., Ivanova, M., Plasma levels and urinary excretion of amino acids by subjects with renal calculi, AMINO ACIDS, vol:38, issue:5, 2010, pages:1277-1282, ISSN (print):0939-4451, doi:10.1007/s00726-009-0359-z
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2010
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34
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Кременски, И., Р. Въжарова, И. Брадинова, М. Иванова, И. Синигерска, Д. Димитров, А. Савов, С. Бичев, С. Андонова, Нови подходи за скрининг и диагностика при вродени грешки на метаболизма, Педиатрия - Suplementum за общопрактикуващия лекар, 2010
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2010
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35
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Въжарова Р, И. Брадинова, А. Савов, С. Бичев, И. Синигерска, М. Иванова, И. Кременски, Съвременни подходи за генетична диагностика при идиопатично изоставане в умственото развитие, Педиатрия - Suplementum за общопрактикуващия лекар, 2010
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2010
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36
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S. S. Atanassova, P. Panchev, M. Ivanova, Plasma levels and urinary excretion of amino acids by subjects with renal calculi, Amino Acids , vol:38, issue:5, 2009, doi:10.1007/s00726-009-0359, Ref
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2009
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37
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M. Ivanova, I. Kremensky, Gas chromatography-mass spectrometry for diagnosis of X-linked adrenoleukodystrophy in Bulgaria, Pediatriya, vol:48, issue:1, 2008, Ref, SCOPUS, SJR (0.1 - 2008)
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2008
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38
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R. Tincheva, M. Ivanova, V. Konstantinova, R. Georgieva, Case with pyruvate dehydrogenase deficiency, Pediatriya, том:45, брой:3, 2005, Ref
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2005
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39
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M. Ivanova, I. Sinigerska, I. Hasanova, I.Kremensky, Selective Screening for Diagnostics of Inherited Metabolic Diseases in Bulgaria, Advances in Bulgarian Science, vol:56, issue:3-4, 2005
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2005
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40
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Kremensky, A.Todorova, A. Jordanova, A. Savov, I. Tarnev, S. Iankova, B. Georgieva, B. Zaharova, R. Kaneva, M. Ivanova, Spectrum of Mutations of the most Common Genetic Disorders in Bulgaria, Journal for Quality of Life Research, vol:1, issue:2, 2003, pages:172-178, Ref, Web of Science
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2003
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41
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V Mazneikova, V Dimitrova, Zh Karag'ozova, M. Ivanova, E Mikhailova, A Stefanova, B Sl'ncheva, K Tsekova, S Lekova, Ts Furnadzhieva, Pregnancy with Rh-isoimmunization. Results of a retrospective analysis in the maternity hospital "Maichin Dom", Akusherstvo i ginekologiia , том:40, брой:3, 2001, стр.:3-7
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2001
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42
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L. Angelova, E.Michaylova, E. Stephanova, M. Ivanova, B. Molzer, I. Kremensky, X-linked Adrenoleokodystrophy: Unusual Clinical Manifestation, Journal of Endocrine GeneticsJournal of Endocrine Genetics, vol:2, issue:4, 2001, pages:247-250, Ref, International
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2001
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43
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Kremensky I, Jordanova A, Michaylova E, Todorova A, M. Ivanova, Petkova R, Andonova S, Savov A, Zaharova B, Iankova S, Laboratory diagnosis of inherited disorders and congenital anomalies in Bulgaria, Balkan Journal of Medical Genetics, vol:3, issue:4, 2000, Ref, Web of Science
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2000
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44
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Kremensky I, Jordanova A, Todorova A, Savov A, Iankova S, Georgieva B, Zaharova B, Kaneva R, Petkova R, M. Ivanova, Mutation profile of the most common genetic disorders in Bulgaria, Balkan Journal of Medical Genetics, vol:3, issue:4, 2000, pages:3-12, Ref, International
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2000
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45
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E. Paskalev, M. Ivanova, I. Kremensky, Plasma amino acid levels in patients on periodic hemodialysis treatment, Nephrology, hemodialysis and transplantasion, том:3, брой:5, 1999, стр.:23-26, Ref
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1999
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46
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Dimitrova V, M. Ivanova, Kremensky I, The impact of establishing local medians for biochemical markers on false positive rate in Down's syndrome serum screening, Balcan Journal of Medical Genetics, 1999, Ref
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1999
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47
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M. Ivanova, P.Yanakiev, E. Michaylova, I. Kremensky, Diagnosis of Organic Acidurias in Bulgaria, Balkan Journal of Medical Genetics, vol:1, issue:3, 1998, pages:128-0, Ref
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1998
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48
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I.Kremensky, P. Janakiev, D. Grancharova, M. Ivanova, MCAD G985 mutation in Bulgarian population, Balkan Journal of Medical Genetics, vol:1, issue:1, 1998, pages:18-20, Ref
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1998
|
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49
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Kremensky I, M. Ivanova, Michajlova E, The Bulgarian programme for selective metabolic screening of inborn errors of metabolism, Balkan Journal of Medical Genetics, vol:5, issue:2, 1998, pages:160-0, Ref
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1998
|
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50
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E. Michaylova, M. Ivanova, I. Kremensky, Identification of Organic acidurias by GC-MS, Balkan Journal of Clinical Laboratory, vol:5, issue:2, 1997
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1997
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| Статия в сборник (на конференция и др.) |
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1
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Ivanova M, Tincheva, S., Todorov, T., Ivanova, M., Sinigerska, I., Kathom, H., Tincheva, R., Avdjieva, D., Tsaneva, S., Todorova, A., Adrenoleukodystrophy for the first time in Bulgaria: two genetically verified cases, one novel mutation, EUROPEAN JOURNAL OF HUMAN GENETICS, vol:27, 2019, pages:957-957, ISSN (print):1018-4813, ISSN (online):1476-5438
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2019
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2
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Ivanova M, Ivanova, M. B., Avdjieva-Tzavella, D. M., Todorova, A. P., Kathom, H. M. H. M., Yordanova, I. T., Todorov, T. P., Litvinenko, I. O., Dasheva-Dimitrova, A. T., Tincheva, R. T., The first manifesting case of Barth syndrome in a heterozygous female patient with normal karyotype, EUROPEAN JOURNAL OF HUMAN GENETICS, vol:27, 2019, pages:168-169, ISSN (print):1018-4813, ISSN (online):1476-5438
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2019
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3
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M. B. Ivanova, D. Avdjieva-Tzavella, T. Todorov, A. Todorova, E. Panteleeva, E. Lazarova,, H. Kathom, P. Yaneva, R. Tincheva, Citrin deficiency caused by a novel mutation in the SLC25A13 gene – clinical, biochemical and genetic characterization of new Caucasian case, European Journal of Human Genetics, 2014, Ref
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2014
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4
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M. B. Ivanova, Bulgarian newborn screening program and selective screening for inherited metabolic diseases - improvements by tandem mass spectrometry, European Journal of Human Genetics, 2013, pages:519-0, Ref
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2013
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5
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M. Ivanova, I. Sinigerska, R. Vazharova, I. Bradinova, I. Kremensky, Bulgarian metabolomic approach for diagnosis of Inherited Organic Acidurias, European Journal of Human Genetics, 2009, pages:354-0, Ref
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2009
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6
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M. Ivanova, I. Bradinova, R. Vazharova, I. Kremensky, Gamma-hydroxyburyric aciduria – identification of the first Bulgarian case by metabolomic approach, European Journal of Human Genetics, 2009, pages:351-0, Ref
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2009
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7
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I. Sinigersska, I. Hassanova, M. B. Ivanova, R. Vazharova, I. Bradinova, I. Kremensky, Laboratory approach for biochemical diagnosis of lysosomal Storage Diseases, European Journal of Human Genetics, 2009, pages:354-0, Ref
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2009
|
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8
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Sinigerska I, M. Ivanova, Vazharova R, Savov A, Kalaydjieva L, Kremensky I, Newborn sceening for phenylketonuria in Bulgaria – past, present and future, Cesko – Slovenska Pediatrie, 2009, pages:202-0
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2009
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9
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R. Vazharova, S. Baklova, A. Savov, R. Rainova, I. Sinigerska, A. Jordanova, A. Todorova, Y. Petrova, M. Ivanova, Prenatal diagnostics in Bulgaria – current experience and future trends, European Journal of Human Genetics, 2009, pages:351-0, Ref
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2009
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10
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M. Ivanova, Sinigerska I., Vazharova R., Bradinova I., Kremensky I., Selective metabolic screening for introduction of expanded newborn sceening for inherited metabolic diseases, Cesko – Slovenska Pediatrie, 2009, pages:207-0
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2009
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11
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Minkova, G, Ivanova M, Plasma levels of glutamate in epileptic patients, treated with different antiepileptic drugs, AMERICAN JOURNAL OF MEDICAL GENETICS, vol:114, issue:7, 2002, pages:832-832, ISSN (print):0148-7299
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2002
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12
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I. Kremensky, S. Andonova, A. Ashikov, V. Chorbov, B. Georgieva, M. Ivanova, N. Ivanova, S. Jankova, A. Jordanova, R. Kaneva, National Genetic Service in Bulgaria, European Journal of Human Genetics, 2001, pages:314-0, Ref
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2001
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13
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M. Ivanova, E. Michaylova, B. Georgieva, I. Kremensky, Diagnosis of X-Adrenoleukodystrophy by Gas Chromatography - Mass Spectrometry in Bulgaria, Balkan Journal of Medical Genetics, 2000, pages:73-0, Ref
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2000
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14
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E. Michaylova, R. Maslarska, M. Ivanova, I. Kremensky, Neonatal multiple carboxylase deficiency - Identification of the first Bulgarian case, Balkan Journal of Clinical Laboratory, 1999, pages:80-0
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1999
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15
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M. Ivanova, E. Michaylova, I. Kremensky, External Quality assurans of the Organic Acids analysis by GC-MS, Balkan Journal of Clinical Laboratory, 1998
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1998
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16
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M. Ivanova, E. Michajlova, I. Kremensky, Gas chromatography-mass spectrometry in the diagnosis of organic acidurias in Bulgaria , Balkan Journal of Clinical Laboratory, 1998, pages:44-0
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1998
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17
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I. Kremensky, M. Ivanova, E. Michaylova, The Bulgarian Program for selective metabolic screening of inborn errors of metabolism, Balkan Journal of Clinical Laboratory, 1998
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1998
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18
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M. Ivanova, E Michaylova, I Kremensky, Diagnosis of organic acidurias by gas chromatography-mass spectrometry in Bulgaria, Jornal of inherited metabolic disease , 1997, pages:42-0, Ref
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1997
|
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19
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I. Kremensky, E. Michaylova, M. Ivanova, J. Bronzova, V. Stoyanova, Prophylaxis of Inherited Diseases in Bulgaria, Cesko – Slovenska Pediatrie, 1997, pages:583-0
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1997
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20
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I. Kremensky, J. Bronzova, E. Michaylova, M. Brankova, V. Dimitrova, M. Ivanova, V. Stoyanova,, Prenatal DNA diagnosis of monogenic disorders by molecular genetics techniques in Bulgaria, Cesko – Slovenska Pediatrie, 1996, pages:107-0
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1996
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| Участие в конференция |
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1
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Пленарен доклад, Мария Иванова, Новости в диагностиката на вродените грешки на обмяната
|
2024
|
|
2
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Секционен доклад, Мария Иванова, Виктория Йорданова, Предизвикателства в диагностиката на вродените грешки на обмяната
|
2024
|
|
3
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Пленарен доклад, Мария Иванова, Кавитираща енцефалопатия при дете с метилмалонова ацидемия
и хомоцистеинемия
|
2023
|
|
4
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Пленарен доклад, Мария Иванова, Метаболомика
|
2023
|
|
5
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Секционен доклад, Мария Иванова, Вродени грешки на обмяната-неонатален скрининг по света и у нас
|
2022
|
|
6
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Постер, Мария Иванова, A case report of Carbonic Anhydrase VA Deficiency
|
2021
|
|
7
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Секционен доклад, Мария Иванова, Вродени грешшки на обмяната - диагностично предизвикателство
|
2021
|
|
8
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Постер, S. Atemin, T. Todorov, M. Ivanova, H. Kathom, D. Avdjieva, V. Mitev, A. Todorova, First genetically proven Arginase deficiency case of Bulgarian Roma origin due to a novel pathogenic splice site variant in the ARG1 gene
|
2019
|
|
9
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Секционен доклад, Мария Иванова, Вродени грешки на обмяната-метаболомен подход за диагностика в България
|
2019
|
|
10
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Постер, Avdjieva-Tzavella D, Kathom H, Ivanova M, Delchev T, Tincheva R, Autism spectrum disorder as a presentation of hyperprolinemia
|
2019
|
|
11
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Постер, Mariya B. Ivanova, A case of dihydropyrimidine dehydrogenase deficiency and homozygous mutation DPYD:c.1905+1G>A in Bulgarian patient with severe autistic disorder
|
2019
|
|
12
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Постер, S. Tincheva, T. Todorov, M. Ivanova, I. Sinigerska, H. Kathom, R. Tincheva, D. Avdjieva, S. Tsaneva1, A. Todorova, Adrenoleukodystrophy for the first time in Bulgaria: two genetically verified cases, one novel mutation
|
2018
|
|
13
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Секционен доклад, А.Дашева, Д. Авджиева, И.Литвиненко, А.Кадъм, М. Иванова, Т. Тодоров, А. Тодорова, Р.Тинчева, Лявокамерна некомпактност при брати и сестра със Синдром на Barth с доказана нова мутация в ТАZ гена
|
2018
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|
14
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Постер, M. B. Ivanova, D. M. Avdjieva-Tzavella, A. P. Todorova, H. M. H. M. Kathom, I. T. Yordanova, T. P. Todorov, I. O. Litvinenko, A. T. Dasheva-Dimitrova, R. T. Tincheva, The first manifesting case of Barth syndrome in a heterozygous female patient with normal karyotype
|
2018
|
|
15
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Секционен доклад, Mandadzhieva A, Avdzhieva-Tzavella D, Todorov T, Tincheva S, Sinigerska V, Ivanova M, Savov A , Mitev V, Todorova A, GENETICALLY PROVEN CASES OF WOLMAN DISEASE IN BULGARIA AND MUTATION SCREENING OF TWO PRESUMABLE ENDEMIC REGIONS
|
2017
|
|
16
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Секционен доклад, Мария Иванова, Вродени грешки на метаболизма. Лабораторна диагностика.
|
2017
|
|
17
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Постер, D. Avdjieva-Tzavella, H. Kathom, M. Ivanova, R. Tincheva, Autism Spectrum Disorder as a First Presentation of Propionic Acidemia
|
2017
|
|
18
|
Постер, Vazharova R. V., Balabanski L., Ivanov S., Andonova S., Ivanova M. B., Sinigerska I., Bradinova I., Josifovska S., Avdjieva-Tzavella D., Hadjidekova S., Savov A., Malinov M., Toncheva D, NGS - promises and obstacles in study of patients with inborn errors of metabolism
|
2016
|
|
19
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Постер, Todorov T., Avdjieva-Tzavella D., Kathom H., Yordanova I., Ivanova M., Tincheva R., Todorova A, Barth syndrome phenotypically manifested in a heterozygous female carrier
|
2016
|
|
20
|
Секционен доклад, Кадъм А., Д. Авджиева-Тзавелла, Р. Тинчева, А. Савов, М. Иванова, С. Андонова, Резултати от едногодишно лечение с Kuvan® на пациенти с фенилкетонурия
|
2015
|
|
21
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Секционен доклад, Maria Ivanova, The laboratory diagnosis of inherited neurometabolic disorders in Bulgaria
|
2015
|
| Учебник |
|
1
|
Мария Иванова, Ива Стоева, Скрининг и сринингови програми. "Педиатрия". Учебник за студенти по медицина, специализанти и докторанти по педиатрия, общопрактикуващи лекари. Второ актуализирано и допълнено издание, ISBN:978-619-92521-0-9
|
2023
|
|
2
|
M. Ivanova, I. Stoeva, Screening and screening programs. Textbook of Pediatrics. For medical students, First edition, ISBN:978-619-7063-38-7, ARBILIS Ltd
|
2020
|
|
3
|
Мария Иванова, И. Стоева, "Скрининг и скринингови програми" Педиатрия.
Учебник за студенти по медицина, Първо издание, ISBN:978-619-7063-32-5, Издателство "Арбилис"
|
2019
|
|
4
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Авторски колектив, Мария Иванова, Медицинска генетика в клиничната практика.
Ръководство за лекари и студенти, ISBN:954-649-199-3, Издателска къща CIELA София
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1999
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