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Clin Pediatr Endocrinol. 2015 Oct;24(4):191-3. doi: 10.1297/cpe.24.191. Epub 2015 Oct 24.

A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Ryojun Takeda, Masaki Takagi, Kentaro Miyai, Hiroyuki Shinohara, Hiroko Yagi, Maki Moritani, Ichiro Yokota, Yukihiro Hasegawa

Affiliations

  1. Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  2. Department of Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  3. Laboratory of Pediatric Genomic Medicine, Department of Clinical Research, Shikoku Medical Center for Children and Adults, Kagawa, Japan.
  4. Laboratory of Pediatric Genomic Medicine, Department of Clinical Research, Shikoku Medical Center for Children and Adults, Kagawa, Japan ; Department of Endocrinology, Shikoku Medical Center for Children and Adults, Kagawa, Japan.
  5. Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan ; Department of Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

PMID: 26568660 PMCID: PMC4628954 DOI: 10.1297/cpe.24.191

[No abstract available.]

Keywords: ABCC8; PNDM; sulfonylurea

References

  1. N Engl J Med. 2006 Aug 3;355(5):456-66 - PubMed
  2. Endocr Rev. 2008 May;29(3):265-91 - PubMed
  3. Nat Rev Endocrinol. 2013 Nov;9(11):660-9 - PubMed
  4. Diabetes. 2008 Apr;57(4):1034-42 - PubMed
  5. Horm Res Paediatr. 2013;80(3):137-46 - PubMed

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