Transient Neonatal Diabetes Mellitus Due to Not Described Mutation in ABCC8 Gene with Different Behaviour in Affected Family Members

被引：0
|
作者：
Santos Mata, Maria Angeles [1 ]
Fernandez Viseras, Irene Pilar [2 ]
Torres Barea, Isabel [3 ]
Castano Gonzalez, Luis [4 ]
机构：
[1] Hosp Sas Jerez De La Frontera, Jerez de la Frontera, Spain
[2] Hosp Virgen Del Camino Sanlucar De Barrameda, Sanlucar De Barrameda, Spain
[3] Hosp Univ Puerta Del Mar, Cadiz, Spain
[4] Hosp Univ De Cruces, Baracaldo, Spain
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2018年 / 90卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P2-P065
引用
收藏
页码：232 / 232
页数：1
相关论文
共 50 条
  • [31] Association of ABCC8 gene variants with response to sulfonylurea in type 2 diabetes mellitus
    Melika Azimi
    Melika Paseban
    Sahar Ghareh
    Farshad Sharifi
    Fatemeh Bandarian
    Mandana Hasanzad
    Journal of Diabetes & Metabolic Disorders, 2023, 22 : 649 - 655
  • [32] Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation
    Vieira, Teresa C.
    Bergamin, Carla S.
    Gurgel, Lucimary C.
    Moises, Regina S.
    PEDIATRIC DIABETES, 2010, 11 (07) : 505 - 508
  • [33] Personalized Medicine Switching from Insulin to Sulfonylurea in Permanent Neonatal Diabetes Mellitus Dictated by a Novel Activating ABCC8 Mutation
    Mak, Chloe Miu
    Lee, Ching-yin
    Lam, Ching-wan
    Siu, Wai-Kwan
    Hung, Vanessa Ching-ngar
    Chan, Albert Yan-wo
    DIAGNOSTIC MOLECULAR PATHOLOGY, 2012, 21 (01) : 56 - 59
  • [34] Association of ABCC8 gene variants with response to sulfonylurea in type 2 diabetes mellitus
    Azimi, Melika
    Paseban, Melika
    Ghareh, Sahar
    Sharifi, Farshad
    Bandarian, Fatemeh
    Hasanzad, Mandana
    JOURNAL OF DIABETES AND METABOLIC DISORDERS, 2023, 22 (01) : 649 - 655
  • [35] Challenges in transition to oral sulfonylurea from insulin in a case of ABCC8 gene activating mutation causing neonatal diabetes
    Shah, Bina
    Breidbart, Emily
    Lam, Leslie
    Pawelczak, Melissa
    Kessler, Marion
    Franklin, Bonita
    HORMONE RESEARCH, 2009, 72 : 472 - 473
  • [36] Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations
    Kapoor, R. R.
    Flanagan, S. E.
    James, C. T.
    McKiernan, J.
    Thomas, A. M.
    Harmer, S. C.
    Shield, J. P.
    Tinker, A.
    Ellard, S.
    Hussain, K.
    DIABETOLOGIA, 2011, 54 (10) : 2575 - 2583
  • [37] Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations
    R. R. Kapoor
    S. E. Flanagan
    C. T. James
    J. McKiernan
    A. M. Thomas
    S. C. Harmer
    J. P. Shield
    A. Tinker
    S. Ellard
    K. Hussain
    Diabetologia, 2011, 54 : 2575 - 2583
  • [38] Sirolimus Precipitating Diabetes in a Patient with Congenital Hyperinsulinism due to Autosomal Dominant ABCC8 Mutation
    Dastamani, Antonia
    Guemes, Maria
    Shah, Pratik
    Hussain, Khalid
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 522 - 522
  • [39] A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes
    Proks, Peter
    Arnold, Amanda L.
    Bruining, Jan
    Girard, Christophe
    Flanagan, Sarah E.
    Larkin, Brian
    Colclough, Kevin
    Hattersley, Andrew T.
    Ashcroft, Frances M.
    Ellard, Sian
    HUMAN MOLECULAR GENETICS, 2006, 15 (11) : 1793 - 1800
  • [40] Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (ABCC8) gene unmasks maturity-onset diabetes of the young (MODY) diabetes cases within a family
    Giannopoulou, Eleni Z.
    Ovcarov, Olga
    De Franco, Elisa
    Kassberger, Fabian
    Nusser, Susanne
    Otto, Marie Celine
    Denzer, Christian
    Wabitsch, Martin
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2021, 34 (02): : 273 - 276
12345