Matches in SemOpenAlex for { <https://semopenalex.org/work/W3200988331> ?p ?o ?g. }
- W3200988331 abstract "Congenital hyperinsulinism (CHI) is a rare disease characterized by an unregulated insulin release, leading to hypoglycaemia. It is the most frequent cause of persistent and severe hypoglycaemia in the neonatal period and early childhood. Mutations in 16 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, KCNQ1, CACNA1D, FOXA2, EIF2S3, PGM1 and PMM2) that are involved in regulating the insulin secretion from pancreatic β-cells have been described to be responsible for the underlying molecular mechanisms of CHI. CHI can also be associated with specific syndromes and can be secondary to intrauterine growth restriction (IUGR), maternal diabetes, birth asphyxia, etc. It is important to diagnose and promptly initiate appropriate management as untreated hypoglycaemia can be associated with significant neurodisability. CHI can be histopathologically classified into diffuse, focal and atypical forms. Advances in molecular genetics, imaging techniques (18F-fluoro-l-dihydroxyphenylalanine positron emission tomography/computed tomography scanning), novel medical therapies and surgical advances (laparoscopic pancreatectomy) have changed the management and improved the outcome of patients with CHI. This review article provides an overview of the background, clinical presentation, diagnosis, molecular genetics and therapy for children with different forms of CHI." @default.
- W3200988331 created "2021-09-27" @default.
- W3200988331 creator A5006750183 @default.
- W3200988331 creator A5021947522 @default.
- W3200988331 creator A5082675896 @default.
- W3200988331 date "2021-09-21" @default.
- W3200988331 modified "2023-10-01" @default.
- W3200988331 title "Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management" @default.
- W3200988331 cites W1559840198 @default.
- W3200988331 cites W1891268586 @default.
- W3200988331 cites W1967093093 @default.
- W3200988331 cites W1967440935 @default.
- W3200988331 cites W1968341708 @default.
- W3200988331 cites W1969415064 @default.
- W3200988331 cites W1972178744 @default.
- W3200988331 cites W1972987087 @default.
- W3200988331 cites W1980659600 @default.
- W3200988331 cites W1985172908 @default.
- W3200988331 cites W1986955459 @default.
- W3200988331 cites W1988196562 @default.
- W3200988331 cites W1989550908 @default.
- W3200988331 cites W1994924615 @default.
- W3200988331 cites W1996092773 @default.
- W3200988331 cites W1997538488 @default.
- W3200988331 cites W1997986298 @default.
- W3200988331 cites W2001827575 @default.
- W3200988331 cites W2003433071 @default.
- W3200988331 cites W2005857071 @default.
- W3200988331 cites W2006570311 @default.
- W3200988331 cites W2011413530 @default.
- W3200988331 cites W2013863496 @default.
- W3200988331 cites W2015488347 @default.
- W3200988331 cites W2016657294 @default.
- W3200988331 cites W2019830562 @default.
- W3200988331 cites W2021710705 @default.
- W3200988331 cites W2025639562 @default.
- W3200988331 cites W2027162538 @default.
- W3200988331 cites W2028294196 @default.
- W3200988331 cites W2036372088 @default.
- W3200988331 cites W2036413730 @default.
- W3200988331 cites W2037371701 @default.
- W3200988331 cites W2042039092 @default.
- W3200988331 cites W2042683979 @default.
- W3200988331 cites W2048406951 @default.
- W3200988331 cites W2051451149 @default.
- W3200988331 cites W2055250293 @default.
- W3200988331 cites W2055714645 @default.
- W3200988331 cites W2059432705 @default.
- W3200988331 cites W2059502948 @default.
- W3200988331 cites W2061743337 @default.
- W3200988331 cites W2063735793 @default.
- W3200988331 cites W2067613113 @default.
- W3200988331 cites W2069399331 @default.
- W3200988331 cites W2069640762 @default.
- W3200988331 cites W2071658009 @default.
- W3200988331 cites W2076523697 @default.
- W3200988331 cites W2077634623 @default.
- W3200988331 cites W2077808397 @default.
- W3200988331 cites W2077900583 @default.
- W3200988331 cites W2079148375 @default.
- W3200988331 cites W2079456780 @default.
- W3200988331 cites W2079574791 @default.
- W3200988331 cites W2082368169 @default.
- W3200988331 cites W2082763759 @default.
- W3200988331 cites W2083584165 @default.
- W3200988331 cites W2086491850 @default.
- W3200988331 cites W2092797859 @default.
- W3200988331 cites W2092823267 @default.
- W3200988331 cites W2093632126 @default.
- W3200988331 cites W2095240471 @default.
- W3200988331 cites W2097689482 @default.
- W3200988331 cites W2097856970 @default.
- W3200988331 cites W2098779992 @default.
- W3200988331 cites W2101804129 @default.
- W3200988331 cites W2106509892 @default.
- W3200988331 cites W2107040844 @default.
- W3200988331 cites W2109488560 @default.
- W3200988331 cites W2111189973 @default.
- W3200988331 cites W2112163906 @default.
- W3200988331 cites W2113124237 @default.
- W3200988331 cites W2115981867 @default.
- W3200988331 cites W2119164190 @default.
- W3200988331 cites W2123053518 @default.
- W3200988331 cites W2123326105 @default.
- W3200988331 cites W2123427895 @default.
- W3200988331 cites W2125993227 @default.
- W3200988331 cites W2126354094 @default.
- W3200988331 cites W2130924845 @default.
- W3200988331 cites W2132797748 @default.
- W3200988331 cites W2133560510 @default.
- W3200988331 cites W2137740936 @default.
- W3200988331 cites W2139025111 @default.
- W3200988331 cites W2139474218 @default.
- W3200988331 cites W2140248834 @default.
- W3200988331 cites W2140441583 @default.
- W3200988331 cites W2146077716 @default.
- W3200988331 cites W2146324678 @default.
- W3200988331 cites W2146823823 @default.
- W3200988331 cites W2147281552 @default.
- W3200988331 cites W2154406386 @default.