Annals of Pediatric Endocrinology & Metabolism

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Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8

Julie Mouron-Hryciuk, Sophie Stoppa-Vaucher, Kanetee Busiah, Thérèse Bouthors, Maria Christina Antoniou, Eric Jacot, Klaus Brusgaard, Henrik Thybo Christesen, Khalid Hussain, Andrew Dwyer, Matthias Roth-Kleiner, Michael Hauschild

Ann Pediatr Endocrinol Metab. 2021;26(1):60-65. Published online August 7, 2020
DOI: https://doi.org/10.6065/apem.2040042.021

Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8

Annals of Pediatric Endocrinology & Metabolism. 2021;26(1):60-65

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Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism

Rana Al Balwi, Dalal Bubshait, Raed Al Nefily, Omar Al Ghamdi

Children. 2021;8(10):836

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Genotyping of ABCC8, KCNJ11, and HADH in Iranian Infants with Congenital Hyperinsulinism

Somayyeh Hashemian, Reza Jafarzadeh Esfehani, Siroos Karimdadi, Nosrat Ghaemi, Peyman Eshraghi, Najmeh Malekzadeh Gonabadi, Amirhossein Sahebkar, Rahim Vakili, Mohammad Reza Abbaszadegan

Case Reports in Endocrinology. 2021;2021:1-6

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First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism

Theocharis Koufakis, Amalia Sertedaki, Elizabeth-Barbara Tatsi, Christina-Maria Trakatelli, Spyridon N. Karras, Eleni Manthou, Christina Kanaka-Gantenbein, Kalliopi Kotsa

Case Reports in Genetics. 2019;2019:1-5

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Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism

Caroline M. Joyce, Jayne A. Houghton, Domhnall J. O’Halloran, Paula M. O’Shea, Susan M. O’Connell

Clinical Case Reports. 2020;8(7):1217-1222

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Congenital hyperinsulinism associated with Hirschsprung’s disease—a report of an extremely rare case

Takeshi Shono, Kumiko Shono, Yoshiko Hashimoto, Shohei Taguchi, Masanori Masuda, Kastumi Muramori, Tomoaki Taguchi

Surgical Case Reports. 2020;6(1):

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Modeling Congenital Hyperinsulinism with ABCC8-Deficient Human Embryonic Stem Cells Generated by CRISPR/Cas9

Dongsheng Guo, Haikun Liu, Aynisahan Ruzi, Ge Gao, Abbas Nasir, Yanli Liu, Fan Yang, Feima Wu, Guosheng Xu, Yin-xiong Li

Scientific Reports. 2017;7(1):

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Two Different Meningioma Variants in the Same Tumor: A Rare Histopathological Finding

Reham Khubrani, Sadeq Al-Dandan

Case Reports in Pathology. 2019;2019:1-4

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SUN-270 Heterozygous Mutation in ABCC8 in a Pedigree with Congenital Hyperinsulinism, Multiple Macrosomic Stillbirths, and Adult-Onset Diabetes Mellitus

Karissa Ludwig, Helen Woodhead, Ivan McGown

Journal of the Endocrine Society. 2019;3(Supplement_1):

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Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation

Sarah Kiff, Carolyn Babb, Maria Guemes, Antonia Dastamani, Clare Gilbert, Sarah E Flanagan, Sian Ellard, John Barton, M Dattani, Pratik Shah

Endocrinology, Diabetes & Metabolism Case Reports. 2019;2019:

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