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Page 1
Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.
McGlacken-Byrne SM, Mohammad JK, Conlon N, Gubaeva D, Siersbæk J, Schou AJ, Demirbilek H, Dastamani A, Houghton JAL, Brusgaard K, Melikyan M, Christesen H, Flanagan SE, Murphy NP, Shah P. McGlacken-Byrne SM, et al. Among authors: gubaeva d. Eur J Endocrinol. 2022 Feb 22;186(4):417-427. doi: 10.1530/EJE-21-0897. Eur J Endocrinol. 2022. PMID: 35089870
The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome.
Melikyan M, Gubaeva D, Nikitina I, Ryzhkova D, Mitrofanova L, Yukhacheva D, Pershin D, Shcherbina A, Vasilyev E, Proshchina A, Krivova Y, Tiulpakov A. Melikyan M, et al. Among authors: gubaeva d. J Pediatr Endocrinol Metab. 2021 Oct 27;35(3):405-409. doi: 10.1515/jpem-2021-0464. Print 2022 Mar 28. J Pediatr Endocrinol Metab. 2021. PMID: 34700371
Insulinoma in childhood: a retrospective review of 22 patients from one referral centre.
Melikyan M, Gubaeva D, Shadrina A, Bolmasova A, Kareva M, Tiulpakov A, Efremenkov A, Sokolov Y, Brusgaard K, Christesen HT, Andersen K, Stepanov A, Averyanova J, Makarov S, Gurevich L. Melikyan M, et al. Among authors: gubaeva d. Front Endocrinol (Lausanne). 2023 Apr 19;14:1127173. doi: 10.3389/fendo.2023.1127173. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37152923 Free PMC article.