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Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation
Title Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation Author Staník Juraj SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Co-authors Škopková Martina Brennerová Katarína Daniš Daniel 1989 SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Rosoľanková Monika Salingova Anna Bzdúch Vladimír Klimeš Iwar SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV RID ORCID Source document Diabetes Research and Clinical Practice. Vol. 126 (2017) p. 144-150 Language eng - English Country IE - Ireland Document kind rozpis článkov z periodík (rbx) Citations DEMIRBILEK, Huseyin - HUSSAIN, Khalid. Congenital Hyperinsulinism: Diagnosis and Treatment Update. In JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY. ISSN 1308-5727, 2017, vol. 9, pp. 69-87. DEMIRBILEK, Huseyin - RAHMAN, Sofia A. - BUYUKYILMAZ, Gonul Gulal - HUSSAIN, Khalid. Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology. In INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY. ISSN 1687-9848, 2017. GALCHEVA, Sonya - AL-KHAWAGA, Sara - HUSSAIN, Khalid. Diagnosis and management of hyperinsulinaemic hypoglycaemia. In BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM. ISSN 1521-690X, 2018, vol. 32, no. 4, pp. 551-573. YEH, Matthew M. - BOSCH, Dustin E. - DAOUD, Sayed S. Role of hepatocyte nuclear factor 4-alpha in gastrointestinal and liver diseases. In WORLD JOURNAL OF GASTROENTEROLOGY. ISSN 1007-9327, 2019, vol. 25, no. 30, pp. 4074-4091. VAXILLAIRE, Martine - FROGUEL, Philippe - BONNEFOND, Amelie. How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young. In CURRENT DIABETES REPORTS. ISSN 1534-4827, 2019, vol. 19, no. 9, pp. GALCHEVA, Sonya - DEMIRBILEK, Huseyin - AL-KHAWAGA, Sara - HUSSAIN, Khalid. The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism. In FRONTIERS IN ENDOCRINOLOGY. ISSN 1664-2392, 2019, vol. 10, no., pp. SMITH, Hadley Stevens - SWINT, J. Michael - LALANI, Seema R. - YAMAL, Jose-Miguel - OTTO, Marcia C. de Oliveira - CASTELLANOS, Stephan - TAYLOR, Amy - LEE, Brendan H. - RUSSELL, Heidi V. Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature. In GENETICS IN MEDICINE. ISSN 1098-3600, 2019, vol. 21, no. 1, pp. 3-16. XU, Zidi - HUI, Peipei - ZHANG, Lin - ZENG, Qiao - WU, Yujun - SANG, Yanmei. Hepatocyte nuclear factor 4α hyperinsulinemia: a case report and literature review. In Chinese Journal of Diabetes Mellitus. ISSN 16745809, 2020-05-27, 12, 5, pp. 323-327. LOU, Lili - FU, Hongling - LIU, Hanmin. Literatures analysis on efficacy and safety of diazoxide in treatment of children with congenital hyperinsulinemia. In Chinese Journal of Obstetrics and Gynecology and Pediatrics, 2020-06-01, 16, 3, pp. 288-298. Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2017 Registered in WOS Registered in SCOPUS Registered in CCC DOI 10.1016/j.diabres.2017.02.014 
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rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2017 2016 3.639 Q2 1.531 Q1
Number of the records: 1