Novel mutations in the glycerol kinase gene: molecular and clinical heterogeneity in isolated glycerol kinase deficiency.

被引：0
|
作者：
van Amstel, JKP
Sjarif, DR
Duran, M
Kleijer, WJ
Beemer, FA
Sinke, RJ
Poll, BT
机构：
[1] Wilhelmina Childrens Hosp, Dept Metab Dis, Utrecht, Netherlands
[2] Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
[3] Clin Genet Ctr, NL-3501 CA Utrecht, Netherlands
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1997年 / 61卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
2013
引用
收藏
页码：A344 / A344
页数：1
相关论文
共 50 条
  • [21] MUTATIONS IN THE GLYCEROL KINASE GENE RESTORE THE ABILITY OF A PTRGHI MUTANT OF BACILLUS-SUBTILIS TO GROW ON GLYCEROL
    WEHTJE, C
    BEIJER, L
    NILSSON, RP
    RUTBERG, B
    MICROBIOLOGY-SGM, 1995, 141 : 1193 - 1198
  • [22] Gene therapy for murine glycerol kinase deficiency: Importance of murine ortholog
    Kuwada, N
    Nagano, K
    MacLennan, N
    Havens, J
    Kumar, M
    Dipple, KM
    McCabe, ERB
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2005, 335 (01) : 247 - 255
  • [23] Glycerol Kinase Deficiency in Adult Hypoglycemic Acidemia
    Fodor, Eniko
    Hellerud, Christina
    Hulting, Johan
    Karlson-Stiber, Christine
    Abrahamsson, Lars
    Nystrom, Thomas
    Andersson, Dan E. H.
    Sjoholm, Ake
    NEW ENGLAND JOURNAL OF MEDICINE, 2011, 364 (18): : 1781 - 1782
  • [24] Complex glycerol kinase deficiency: A case report
    Abdenur, Mauro Islas
    ARCHIVOS ARGENTINOS DE PEDIATRIA, 2024,
  • [25] ADRENAL DYSFUNCTION IN GLYCEROL KINASE-DEFICIENCY
    SELTZER, WK
    FIRMINGER, H
    KLEIN, J
    PIKE, A
    FENNESSEY, P
    MCCABE, ERB
    BIOCHEMICAL MEDICINE, 1985, 33 (02): : 189 - 199
  • [26] Complex glycerol kinase deficiency: a case report
    Abdenur, Mauro Islas
    ARCHIVOS ARGENTINOS DE PEDIATRIA, 2024,
  • [27] The Diagnostic Difficulties of Complex Glycerol Kinase Deficiency
    Ramanjam, Veruschka
    Delport, Stephen
    Wilmshurst, Jo M.
    JOURNAL OF CHILD NEUROLOGY, 2010, 25 (10) : 1269 - 1271
  • [28] Glycerol kinase deficiency and adrenal hypoplasia congenita
    Clarke, RA
    Howard, N
    OSullivan, WJ
    Svirklys, LG
    Mackinlay, AG
    JOURNAL OF INHERITED METABOLIC DISEASE, 1997, 20 (04) : 609 - 609
  • [29] Glycerol Kinase (GK) Point Mutations in Patients with Isolated GK Deficiency: Possible Genotype-Phenotype Relationships
    Katrina M Dipple
    Yao-Hua Zhang
    Bing-Ling Huang
    Edward R McCabe
    Pediatric Research, 1999, 45 : 137 - 137
  • [30] Glycerol kinase (GK) point mutations in patients with isolated GK deficiency: Possible genotype-phenotype relationships
    Dipple, KM
    Zhang, YH
    Huang, BL
    McCabe, ER
    PEDIATRIC RESEARCH, 1999, 45 (04) : 137A - 137A
12345