PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Annals of Pediatric Endocrinology & Metabolism10.6065/apem.2142010.0052021264278-283Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutationChristiaan F. Mooij, Carline E. Tacke, Mirjam E. van Albada, Winfried Barthlen, Hennie Bikker, Klaus Mohnike, Matthijs W.N. Oomen, A.S. Paul van Trotsenburg, Nitash Zwaveling-Soonawalahttp://e-apem.org/upload/pdf/apem-2142010-005.pdf, http://e-apem.org/journal/view.php?doi=10.6065/apem.2142010.005, http://e-apem.org/upload/pdf/apem-2142010-005.pdf
Endocrinology, Diabetes & Metabolism Case Reports10.1530/edm-18-012020192019Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutationSarah Kiff, Carolyn Babb, Maria Guemes, Antonia Dastamani, Clare Gilbert, Sarah E Flanagan, Sian Ellard, John Barton, M Dattani, Pratik Shahhttps://edm.bioscientifica.com/view/journals/edm/2019/1/EDM18-0120.xml, https://edm.bioscientifica.com/downloadpdf/journals/edm/2019/1/EDM18-0120.xml
Clinical Endocrinology10.1111/cen.144432021946940-948Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutationKei Takasawa, Yuichi Miyakawa, Yoko Saito, Eriko Adachi, Tsunanori Shidei, Akito Sutani, Maki Gau, Ryuichi Nakagawa, Atsuko Taki, Kenichi Kashimada, Tomohiro Moriohttps://onlinelibrary.wiley.com/doi/pdf/10.1111/cen.14443, https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cen.14443, https://onlinelibrary.wiley.com/doi/pdf/10.1111/cen.14443
Journal of the Endocrine Society10.1210/js.2019-sun-27020193Supplement_1SUN-270 Heterozygous Mutation in ABCC8 in a Pedigree with Congenital Hyperinsulinism, Multiple Macrosomic Stillbirths, and Adult-Onset Diabetes MellitusKarissa Ludwig, Helen Woodhead, Ivan McGownhttps://academic.oup.com/jes/article/doi/10.1210/js.2019-SUN-270/5482635
Korean Journal of Pediatrics10.3345/kjp.2016.59.11.s116201659Suppl 1S116A novel mutation ofABCC8gene in a patient with diazoxide-unresponsive congenital hyperinsulinismJi Sook Park, Hong-Jun Lee, Chan-Hoo Parkhttps://synapse.koreamed.org/pdf/10.3345/kjp.2016.59.11.S116, https://synapse.koreamed.org/DOIx.php?id=10.3345/kjp.2016.59.11.S116, http://kjp.or.kr/upload/pdf/kjped-59-S116.pdf
Case Reports in Genetics10.1155/2019/3654618201920191-5First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital HyperinsulinismTheocharis Koufakis, Amalia Sertedaki, Elizabeth-Barbara Tatsi, Christina-Maria Trakatelli, Spyridon N. Karras, Eleni Manthou, Christina Kanaka-Gantenbein, Kalliopi Kotsahttp://downloads.hindawi.com/journals/crig/2019/3654618.pdf, http://downloads.hindawi.com/journals/crig/2019/3654618.xml, http://downloads.hindawi.com/journals/crig/2019/3654618.pdf
Tzu Chi Medical Journal10.1016/j.tcmj.2016.04.0012016284162-165Successful treatment of a newborn with congenital hyperinsulinism having a novel heterozygous mutation in the ABCC8 gene using subtotal pancreatectomyChi-Feng Yen, Chi-Yu Huang, Chon-In Chan, Chiung-Hsing Hsu, Nien-Lu Wang, Tao-Yeuan Wang, Chiung-Ling Lin, Wei-Hsin Tinghttp://api.elsevier.com/content/article/PII:S1016319016300015?httpAccept=text/xml, http://api.elsevier.com/content/article/PII:S1016319016300015?httpAccept=text/plain
Diabetes & Metabolic Syndrome: Clinical Research & Reviews10.1016/j.dsx.2013.02.01820148145-47Novel mutation c.597_598dup in exon 5 of ABCC8 gene causing congenital hyperinsulinismRadhika Jindal, Ayesha Ahmad, Mohammad Asim Siddiqui, Inderpal Singh Kochar, Subhash Kumar Wangnoohttps://api.elsevier.com/content/article/PII:S1871402113000192?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1871402113000192?httpAccept=text/plain
Clinical Endocrinology10.1111/j.1365-2265.2011.04203.x2012762312-313Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 geneRitika R. Kapoor, Sarah E. Flanagan, Sian Ellard, Khalid Hussainhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2265.2011.04203.x, http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2011.04203.x/fullpdf
Children10.3390/children81008362021810836Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital HyperinsulinismRana Al Balwi, Dalal Bubshait, Raed Al Nefily, Omar Al Ghamdihttps://www.mdpi.com/2227-9067/8/10/836/pdf