Literature DB >> 21851374

Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene.

Ritika R Kapoor, Sarah E Flanagan, Sian Ellard, Khalid Hussain.   

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Year:  2012        PMID： 21851374     DOI： 10.1111/j.1365-2265.2011.04203.x

Source DB:  PubMed          Journal:  Clin Endocrinol (Oxf)        ISSN： 0300-0664            Impact factor:   3.478


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  4 in total

1.  Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy.

Authors:  Ved Bhushan Arya; Qadeer Aziz; Azizun Nessa; Andrew Tinker; Khalid Hussain
Journal:  Int J Pediatr Endocrinol       Date:  2014-12-15

Review 2.  Update on neonatal hypoglycemia.

Authors:  Paul J Rozance
Journal:  Curr Opin Endocrinol Diabetes Obes       Date:  2014-02       Impact factor: 3.243

3.  Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.

Authors:  Cécile Saint-Martin; Marine Cauchois-Le Mière; Emily Rex; Omar Soukarieh; Jean-Baptiste Arnoux; Julien Buratti; Delphine Bouvet; Thierry Frébourg; Pascaline Gaildrat; Show-Ling Shyng; Christine Bellanné-Chantelot; Alexandra Martins
Journal:  Hum Mutat       Date:  2021-01-28       Impact factor: 4.878

4.  Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

Authors:  Emregül Işık; Hüseyin Demirbilek; Jayne A. Houghton; Sian Ellard; Sarah E. Flanagan; Khalid Hussain
Journal:  J Clin Res Pediatr Endocrinol       Date:  2018-03-29
  4 in total

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