A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins-Reference-Cited by-同舟云学术

A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins

Published:2015-11-18 Issue:1 Volume:7 Page:
ISSN:1758-5996
Container-title:Diabetology & Metabolic Syndrome
language:en
Short-container-title:Diabetol Metab Syndr

Author:

Esquiaveto-Aun Adriana Mangue^ORCID,De Mello Maricilda Palandi,Paulino Maria Fernanda Vanti Macedo,Minicucci Walter José,Guerra-Júnior Gil,De Lemos-Marini Sofia Helena Valente

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13098-015-0101-9

Reference38 articles.

1. Edghill EL, Dix RJ, Flanagan SE, Bingley PJ, Hattersley AT, Ellard S, et al. HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes. 2006;55(6):1895–8.

2. Rubio-Cabezas O, Klupa T, Malecki MT, Consortium C. Permanent neonatal diabetes mellitus—the importance of diabetes differential diagnosis in neonates and infants. Eur J Clin Invest. 2011;41(3):323–33.

3. Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, et al. Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab. 2007;92(4):1276–82.

4. Slingerland AS, Shields BM, Flanagan SE, Bruining GJ, Noordam K, Gach A, et al. Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births. Diabetologia. 2009;52(8):1683–5.

5. Russo L, Iafusco D, Brescianini S, Nocerino V, Bizzarri C, Toni S, et al. Permanent diabetes during the first year of life: multiple gene screening in 54 patients. Diabetologia. 2011;54(7):1693–701.

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil;Clinical Genetics;2022-12-23

2. ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents;Pediatric Diabetes;2022-12

3. A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing;Genes;2022-11-13

4. Variable presentations of GCK gene mutation in a family;BMJ Case Reports;2022-02

5. Childhood-onset mild diabetes caused by a homozygous novel variant in the glucokinase gene;Hormones;2021-10-25