The prevalence estimation of PNDM in Poland: the relative contribution of mutations in KCNJ11 and ABCC8 genes

被引：0
|
作者：
Klupa, T.
Gach, A.
Patch, A.-M.
Skupien, J.
Pietrzak, I.
Ellard, S.
Hattersley, A.
Mlynarski, W.
Malecki, M. T.
Sieradzki, J.
机构：
[1] Jagiellonian Univ, Dept Metab Dis, Krakow, Poland
[2] Med Univ Lodz, Pediat Clin, Inst Pediat, Lodz, Poland
[3] Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter, Devon, England
来源：
DIABETOLOGIA | 2007年 / 50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：
0281
引用
收藏
页码：S124 / S124
页数：1
相关论文
共 50 条
  • [1] Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11
    Edghill, Emma L.
    Flanagan, Sarah E.
    Ellard, Sian
    REVIEWS IN ENDOCRINE & METABOLIC DISORDERS, 2010, 11 (03): : 193 - 198
  • [2] Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11
    Emma L. Edghill
    Sarah E. Flanagan
    Sian Ellard
    Reviews in Endocrine and Metabolic Disorders, 2010, 11 : 193 - 198
  • [3] Variability of type 1 diabetes predisposing genes in anti-islet autoantibody seroconversion observed in PNDM caused by mutations in the KCNJ11 and ABCC8
    Gach, Agnieszka
    Malecki, Maciej T.
    Klich, Izabela
    Wyka, Krystyna
    Heinrich, Agnieszka
    Borowiec, Maciej
    Sieradzki, Jacek
    Mlynarski, Wojciech M.
    DIABETES, 2008, 57 : A320 - A320
  • [4] HAPLOTYPE STRUCTURES OF ABCC8 AND KCNJ11 GENES AND THEIR INFLUENCE ON GLIMEPIRIDE EFFICACY
    Saito, Yoshiro
    Tohkin, Masahiro
    Fukushima-Uesaka, Hiromi
    Maekawa, Keiko
    Sai, Kimie
    Hasegawa, Ryuichi
    Kamatani, Naoyuki
    Suzuki, Kazuko
    Kajio, Hiroshi
    Kuzuya, Nobuaki
    Noda, Mitsuhiko
    Yanagawa, Tatsuo
    Yasuda, Kazuki
    Sawada, Jun-ichi
    DRUG METABOLISM REVIEWS, 2007, 39 : 267 - 267
  • [5] 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
  • [6] Clinical Characteristics of Congenital Hyperinsulinism Caused by Dominant KCNJ11/ABCC8 Mutations
    Melikyan, Maria
    Gubaeva, Diliara
    Tyulpakov, Anatoliy
    Kareva, Maria
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 357 - 357
  • [7] Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
    Rozenkova, Klara
    Nessa, Azizun
    Obermannova, Barbora
    Elblova, Lenka
    Dusatkova, Petra
    Sumnik, Zdenek
    Lebl, Jan
    Hussain, Khalid
    Pruhova, Stepanka
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2017, 30 (12): : 1311 - 1315
  • [8] 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
  • [9] TRANSIENT NEONATAL DIABETES MELLITUS IN PATIENTS WITH MUTATION OF ABCC8 AND KCNJ11 GENES
    Can, Ngoc T. B.
    Dung Chi Vu
    Bui, Thao P.
    Nguyen, Khanh N.
    Nguyen, Dat P.
    De Franco, Elisa
    Flanagan, Sarah
    Ellard, Sian
    Nguyen, Hoan T.
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 268 - 268
  • [10] Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients
    Adi, Ahmad
    Bin Abbas, Bassam
    Al Hamed, Mohamed
    Al Tassan, Nada
    Bakheet, Dana
    GENES, 2015, 6 (02): : 206 - 215
12345