المؤلفون: 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

المصدر: 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

مصطلحات موضوعية: Male, Adolescent, Endocrinology, Diabetes and Metabolism, Cohort Studies, Genetic Heterogeneity, Endocrinology, Hyperinsulinism, Diabetes Mellitus, Type 1/genetics, Birth Weight, Humans, Hepatocyte Nuclear Factor 1-alpha, Hepatocyte Nuclear Factor 1-alpha/genetics, Child, Medical History Taking, Diazoxide/therapeutic use, Hyperinsulinism/drug therapy, Diazoxide, Infant, Newborn, Infant, General Medicine, Fanconi Syndrome, Hypoglycemia, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Hepatocyte Nuclear Factor 4, Hepatocyte Nuclear Factor 4/genetics, Child, Preschool, Mutation, Diabetes Mellitus, Type 2/genetics, Hypoglycemia/drug therapy, Female, Fanconi Syndrome/genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c633e75590c4bd7905fb8beb09f440
https://doi.org/10.1530/eje-21-0897