A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia-Reference-Cited by-同舟云学术

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

Published:2017-03-20 Issue:4 Volume:18 Page:320-323
ISSN:1399-543X
Container-title:Pediatric Diabetes
language:en
Short-container-title:Pediatr Diabetes

Author:

Flanagan SE¹^ORCID,Vairo F²,Johnson MB¹,Caswell R¹,Laver TW¹,Lango Allen H¹,Hussain K³,Ellard S¹

Affiliation:

1. Institute of Biomedical and Clinical Science; University of Exeter Medical School; Exeter UK

2. Medical Genetics Service; Hospital de Clínicas de Porto Alegre; Porto Alegre RS Brazil

3. Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit; UCL Institute of Child Health and Great Ormond Street Hospital; London UK

Funder

Medical Research Council

Wellcome Trust

Royal Society

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health,Internal Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pedi.12512/fullpdf

Reference10 articles.

1. Treatment of hyperinsulinaemic hypoglycaemia with nifedipine;Eichmann;Eur J Pediatr,1999

2. The diagnosis and management of hyperinsulinaemic hypoglycaemia;Rozenkova;J Clin Res Pediatr Endocrinol,2015

3. Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism;Kapoor;Eur J Endocrinol,2013

4. Hyperinsulinism in developmental syndromes;Kapoor;Endocr Dev,2009

5. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease;Flanagan;Nat Genet,2014

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