Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor

被引:206
|
作者
Dunne, MJ
Kane, C
Shepherd, RM
Sanchez, JA
James, RFL
Johnson, PRV
AynsleyGreen, A
Lu, S
Clement, JP
Lindley, KJ
Seino, S
AguilarBryan, L
机构
[1] BAYLOR COLL MED,DEPT MED,DIV ENDOCRINOL,HOUSTON,TX 77030
[2] BAYLOR COLL MED,DEPT CELL BIOL,HOUSTON,TX 77030
[3] UNIV SHEFFIELD,DEPT BIOMED SCI,SHEFFIELD S10 2TN,S YORKSHIRE,ENGLAND
[4] UNIV SHEFFIELD,DEPT SURG,SHEFFIELD S10 2TN,S YORKSHIRE,ENGLAND
[5] UNIV LONDON,INST CHILD HLTH,LONDON WC1N 1EH,ENGLAND
[6] CHIBA UNIV,SCH MED,RES CTR PATHOGEN FUNGI & MICROBIAL TOXICOSIS,CHIBA 280,JAPAN
[7] CHIBA UNIV,SCH MED,DIV MOL MED,CTR BIOMED SCI,CHIBA 280,JAPAN
来源
NEW ENGLAND JOURNAL OF MEDICINE | 1997年 / 336卷 / 10期
基金
英国惠康基金;
关键词
D O I
10.1056/NEJM199703063361005
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:703 / 706
页数:4
相关论文
共 50 条
  • [1] MUTATIONS IN THE SULFONYLUREA RECEPTOR GENE IN FAMILIAL PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
    THOMAS, PM
    COTE, GJ
    WOHLLK, N
    HADDAD, B
    MATHEW, PM
    RABL, W
    AGUILARBRYAN, L
    GAGEL, RF
    BRYAN, J
    SCIENCE, 1995, 268 (5209) : 426 - 429
  • [2] An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus
    Kukuvitis, A
    Deal, C
    Arbour, L
    Polychronakos, C
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1997, 82 (04): : 1192 - 1194
  • [3] Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy
    Shyng, SL
    Ferrigni, T
    Shepard, JB
    Nestorowicz, A
    Glaser, B
    Permutt, MA
    Nichols, CG
    DIABETES, 1998, 47 (07) : 1145 - 1151
  • [4] Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy
    Thomas, PM
    Wohllk, N
    Huang, E
    Kuhnle, U
    Rabl, W
    Gagel, RF
    Cote, GJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1996, 59 (03) : 510 - 518
  • [5] Mutations in the sulfonylurea receptor gene in relation to the long-term outcome of persistent hyperinsulinemic hypoglycemia of infancy
    Taguchi, T
    Suita, S
    Ohkubo, K
    Ono, J
    JOURNAL OF PEDIATRIC SURGERY, 2002, 37 (04) : 593 - 598
  • [6] The molecular basis for familial persistent hyperinsulinemic hypoglycemia of infancy
    Thomas, PM
    Cote, GJ
    Wohllk, N
    Mathew, PM
    Gagel, RF
    PROCEEDINGS OF THE ASSOCIATION OF AMERICAN PHYSICIANS, 1996, 108 (01) : 14 - 18
  • [7] Persistent hyperinsulinemic hypoglycemia of infancy
    Yadav, Dinesh
    Dhingra, Bhavna
    Kumar, Sandeep
    Kumar, Virendra
    Dutta, Ashok Kumar
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2012, 25 (5-6): : 591 - 593
  • [8] Persistent hyperinsulinemic hypoglycemia of infancy
    Cohen, MM
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 122A (04): : 351 - 353
  • [9] A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland
    Otonkoski, T
    Ämmälä, C
    Huopio, H
    Cote, GJ
    Chapman, J
    Cosgrove, K
    Ashfield, R
    Huang, E
    Komulainen, J
    Ashcroft, FM
    Dunne, MJ
    Kere, J
    Thomas, PM
    DIABETES, 1999, 48 (02) : 408 - 415
  • [10] THE ENIGMA OF PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
    DANEMAN, D
    EHRLICH, RM
    JOURNAL OF PEDIATRICS, 1993, 123 (04): : 573 - 575