Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Maria Melikyan"'
Autor:
Sommayya Aftab, Diliara Gubaeva, Jayne A L Houghton, Antonia Dastamani, Ellada Sotiridou, Clare Gilbert, Sarah E Flanagan, Anatoly Tiulpakov, Maria Melikyan, Pratik Shah
Publikováno v:
Endocrine Connections, Vol 12, Iss 4, Pp 1-7 (2023)
Background: Hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common type of congenital hyperinsulinism caused by an activating GLUD1 mutation. Objective: The aim of this study was to determine the clinical profile and long-term neur
Externí odkaz:
https://doaj.org/article/880f7ca7eaf7476fabee9019cd87379d
Autor:
Maria Melikyan, Diliara Gubaeva, Anna Shadrina, Anna Bolmasova, Maria Kareva, Anatoly Tiulpakov, Artem Efremenkov, Yuri Sokolov, Klaus Brusgaard, Henrik T. Christesen, Kirstine Andersen, Alexey Stepanov, Julia Averyanova, Sergey Makarov, Larisa Gurevich
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
BackgroundInsulinomas are very rare in childhood with sparse knowledge on the clinical aspects and the presence of Multiple Endocrine Neoplasia type 1 (MEN1).MethodsWe conducted a retrospective review of patients diagnosed with insulinoma between 199
Externí odkaz:
https://doaj.org/article/b221cd46fac44c7eaa51c3bfae4690a0
Autor:
Annett Helleskov, Maria Melikyan, Evgenia Globa, Inna Shcherderkina, Fani Poertner, Anna-Maria Larsen, Karen Filipsen, Klaus Brusgaard, Charlotte Dahl Christiansen, Lars Kjaersgaard Hansen, Henrik T. Christesen
Publikováno v:
Frontiers in Endocrinology, Vol 8 (2017)
Background/aimsCongenital hyperinsulinism (CHI) is a heterogeneous disease most frequently caused by KATP-channel (ABCC8 and KCNJ11) mutations, with neonatal or later onset, variable severity, and with focal or diffuse pancreatic involvement as the t
Externí odkaz:
https://doaj.org/article/bc028854e96c4b3db33752cb530b156d
Autor:
Sinéad M McGlacken-Byrne, Jasmina Kallefullah Mohammad, Niamh Conlon, Diliara Gubaeva, Julie Siersbæk, Anders Jørgen Schou, Huseyin Demirbilek, Antonia Dastamani, Jayne A L Houghton, Klaus Brusgaard, Maria Melikyan, Henrik Christesen, Sarah E Flanagan, Nuala P Murphy, Pratik Shah
Publikováno v:
McGlacken-Byrne, S M, Mohammad, J K, Conlon, N, Gubaeva, D, Siersbæk, J, Schou, A J, Demirbilek, H, Dastamani, A, Houghton, J A L, Brusgaard, K, Melikyan, M, Christesen, H, Flanagan, S E, Murphy, N P & Shah, P 2022, ' Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia ', European Journal of Endocrinology, vol. 186, no. 4, pp. 417-427 . https://doi.org/10.1530/EJE-21-0897
Objective The phenotype mediated by HNF4A/HNF1A mutations is variable and includes diazoxide-responsive hyperinsulinaemic hypoglycaemia (HH) and maturity-onset diabetes of the young (MODY). Design We characterised an international multicentre paediat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c633e75590c4bd7905fb8beb09f440
https://doi.org/10.1530/eje-21-0897
https://doi.org/10.1530/eje-21-0897
Publikováno v:
Problems of Endocrinology. 66:81-87
BACKGROUND: Congenital hyperinsulinism (CHI) is a severe disease with a high risk of development of neurological complications due to persistent hypoglycemia. The use of an analog of somatostatin (octreotide) in patients with the resistance to the fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2228b62c25bc065807f842fa86083127
https://doi.org/10.14341/probl12421
https://doi.org/10.14341/probl12421
Autor:
E. A. Kamenets, Elena A. Gusarova, T.V. Strokova, Maria Melikyan, Natalia V. Milovanova, Ekaterina Zakharova, Irina Georgievna Rybkina, Irina V. Garyaeva, Natalia V. Nikitina, Yulia S. Itkis
Publikováno v:
JIMD Reports
JIMD Reports, Vol 53, Iss 1, Pp 39-44 (2020)
JIMD Reports, Vol 53, Iss 1, Pp 39-44 (2020)
Glycogen storage disease type 0 (GSD 0) is an autosomal recessive disorder of glycogen metabolism caused by mutations in the GYS2 gene manifesting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting, and po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ab0697f1a812d1b48681055249717f4
https://doi.org/10.1002/jmd2.12082
https://doi.org/10.1002/jmd2.12082
Autor:
Sommayya Aftab, Diliara Gubaeva, Jayne A L Houghton, Antonia Dastamani, Ellada Sotiridou, Clare Gilbert, Sarah E Flanagan, Anatoly Tiulpakov, Maria Melikyan, Pratik Shah
Publikováno v:
Endocrine connections.
Background Hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common type of congenital hyperinsulinism caused by an activating GLUD1 mutation. Objective The aim of this study was to determine the clinical profile and long-term neurol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9227de70319edddb420234c924719466
https://pubmed.ncbi.nlm.nih.gov/35951311
https://pubmed.ncbi.nlm.nih.gov/35951311
Autor:
Anatoly Tiulpakov, Evgeniy Vasilyev, Dmitry Pershin, Anna Shcherbina, Lubov Mitrofanova, Alexandra Proshchina, D. V. Ryzhkova, Maria Melikyan, Diliara Gubaeva, Yuliya Krivova, Daria Yukhacheva, Irina Nikitina
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism.
Objectives Congenital hyperinsulinism (CHI) is a group of rare genetic disorders characterized by insulin overproduction. CHI causes life-threatening hypoglycemia in neonates and infants. Bloom syndrome is a rare autosomal recessive disorder caused b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4718016a2b709dbda95132fc8f3acb0e
https://doi.org/10.1515/jpem-2021-0464
https://doi.org/10.1515/jpem-2021-0464
Autor:
Mcglacken-Byrne, Sinead M., Mohammad, Jasmina Kallefullah, Conlon, Niamh, Gubaeva, Diliara, Siersbaek, Julie, Schou, Anders Jorgen, Demibilek, Huseyin, Dastamani, Antonia, Houghton, Jayne, Brusgaard, Klaus, Maria Melikyan, Christesen, Henrik, Flanagan, Sarah E., Murphy, Nuala P., Shah, Pratik
Publikováno v:
McGlacken-Byrne, S M, Mohammad, J K, Conlon, N, Gubaeva, D, Siersbaek, J, Schou, A J, Demibilek, H, Dastamani, A, Houghton, J, Brusgaard, K, Melikyan, M, Christesen, H, Flanagan, S E, Murphy, N P & Shah, P 2021, ' Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort ', Hormone Research in Paediatrics, vol. 94, no. Suppl. 1, FC4.6, pp. 39-40 . < https://www.karger.com/Article/Pdf/518849 >
Web of Science
Web of Science
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fef8c567518b297cb8207a37bc1583a8
https://www.karger.com/Article/Pdf/518849
https://www.karger.com/Article/Pdf/518849
Publikováno v:
Diabetes. 70
The main cause of diabetes is the loss or dysfunction of beta cells that leads to insulin deficiency and hyperglycemia. However, there are some opposite pathologies, in which insulin secretion results in hypoglycemia. Data on the islets morphology in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::27cdee68afd0bf9fa4a52ec1cf071d38
https://doi.org/10.2337/db21-1246-p
https://doi.org/10.2337/db21-1246-p