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pro vyhledávání: '"Julie Siersbæk"'
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