Annals of Pediatric Endocrinology & Metabolism

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Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation

Christiaan 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-Soonawala

Ann Pediatr Endocrinol Metab. 2021;26(4):278-283. Published online May 7, 2021
DOI: https://doi.org/10.6065/apem.2142010.005

Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation

Christiaan 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-Soonawala

Annals of Pediatric Endocrinology & Metabolism. 2021;26(4):278-283

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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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Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation

Kei Takasawa, Yuichi Miyakawa, Yoko Saito, Eriko Adachi, Tsunanori Shidei, Akito Sutani, Maki Gau, Ryuichi Nakagawa, Atsuko Taki, Kenichi Kashimada, Tomohiro Morio

Clinical Endocrinology. 2021;94(6):940-948

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Congenital Hyperinsulinism due to a Compound Heterozygous <i>ABCC8 </i>Mutation with Spontaneous Resolution at Eight Weeks

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

Hormone Research in Paediatrics. 2010;73(4):287-292

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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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A novel mutation ofABCC8gene in a patient with diazoxide-unresponsive congenital hyperinsulinism

Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park

Korean Journal of Pediatrics. 2016;59(Suppl 1):S116

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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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A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism

Jacqueline V. Reyes Diaz, Yulin Jin, Kathryn Garber, Kristina M. Cossen, Yujing Li, Peng Jin, Hong Li, Jee‐Young Nina Ham

American Journal of Medical Genetics Part A. 2022;188(8):2429-2433

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Successful treatment of a newborn with congenital hyperinsulinism having a novel heterozygous mutation in the ABCC8 gene using subtotal pancreatectomy

Chi-Feng Yen, Chi-Yu Huang, Chon-In Chan, Chiung-Hsing Hsu, Nien-Lu Wang, Tao-Yeuan Wang, Chiung-Ling Lin, Wei-Hsin Ting

Tzu Chi Medical Journal. 2016;28(4):162-165

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Novel mutation c.597_598dup in exon 5 of ABCC8 gene causing congenital hyperinsulinism

Radhika Jindal, Ayesha Ahmad, Mohammad Asim Siddiqui, Inderpal Singh Kochar, Subhash Kumar Wangnoo

Diabetes & Metabolic Syndrome: Clinical Research & Reviews. 2014;8(1):45-47

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