A Novel Mutations in the glucose-6-phosphatase gene in heterozygous state that cause glycogen storage disease type 1a

被引:0
|
作者
Udawat, Priyanka [1 ]
Shah, Rahul [1 ]
Karthi, Sellamuthu [2 ]
Dhir, Vinay [1 ]
机构
[1] SI Raheja Hosp, Inst Digest & Liver Care, Mumbai, Maharashtra, India
[2] Madurai Kamaraj Univ, Sch Biotechnol, Dept Genet Engn, Madurai, Tamil Nadu, India
关键词
D O I
暂无
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
PE 0350
引用
收藏
页码:758 / 758
页数:1
相关论文
共 50 条
  • [41] LATENCY OF GLUCOSE-6-PHOSPHATASE (G-6-P) IN TYPE IB GLYCOGEN-STORAGE DISEASE (GSD)
    BIALEK, DS
    SHARP, HL
    KANE, WJ
    ELDERS, J
    NORDLIE, RC
    JOURNAL OF PEDIATRICS, 1977, 91 (05): : 838 - 838
  • [42] INTESTINAL GLUCOSE-6-PHOSPHATASE IN CONTROL SUBJECTS AND RELATIVES OF A PATIENT WITH GLYCOGEN STORAGE DISEASE
    WILLIAMS, HE
    JOHNSON, PL
    FIELD, JB
    FENSTER, LF
    LASTER, L
    METABOLISM-CLINICAL AND EXPERIMENTAL, 1963, 12 (03): : 235 - &
  • [43] Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice
    Sun, MS
    Pan, CJ
    Shieh, JJ
    Ghosh, A
    Chen, LY
    Mansfield, BC
    Ward, JM
    Byrne, BJ
    Chou, JY
    HUMAN MOLECULAR GENETICS, 2002, 11 (18) : 2155 - 2164
  • [44] GLUCOSE-6-PHOSPHATASE GENE G327A MUTATION IS COMMON IN CHINESE PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE IA
    HWU, WL
    CHUANG, SC
    TSAI, LP
    CHANG, MH
    CHUANG, SM
    WANG, TR
    HUMAN MOLECULAR GENETICS, 1995, 4 (06) : 1095 - 1096
  • [45] GLUCOSE-6-PHOSPHATASE ACTIVITY IN HUMAN PLACENTA - POSSIBLE DETECTION OF HETEROZYGOTE FOR GLYCOGEN-STORAGE DISEASE TYPE-1
    MATALON, R
    MICHALS, K
    JUSTICE, P
    DEANCHING, MN
    LANCET, 1977, 1 (8026): : 1360 - 1361
  • [46] Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia
    Ki, CS
    Han, SH
    Kim, HJ
    Lee, SG
    Kim, EJ
    Kim, JW
    Choe, YH
    Seo, JK
    Chang, YJ
    Park, JY
    CLINICAL GENETICS, 2004, 65 (06) : 487 - 489
  • [47] Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes
    Chou, Janice Y.
    Jun, Hyun Sik
    Mansfield, Brian C.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2015, 38 (03) : 511 - 519
  • [48] HYPOKETONEMIA IN VON GIERKES DISEASE (GLUCOSE-6-PHOSPHATASE DEFICIENCY) GLYCOGEN STORAGE-DISEASE (GSD) TYPE-I
    BINKIEWI.A
    SENIOR, B
    SADEGHIN.A
    PEDIATRIC RESEARCH, 1972, 6 (04) : 396 - &
  • [49] MUTATION IN CANINE GLUCOSE-6-PHOSPHATASE DEFICIENCY (GLYCOGEN-STORAGE-DISEASE TYPE IA, GSD-IA)
    KISHNANI, PS
    BAO, Y
    WU, JY
    BRIX, AE
    CHEN, YT
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1248 - 1248
  • [50] SHORT REPORT: A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type Ia
    Meaney, C
    Cranston, T
    Lee, P
    Genet, S
    JOURNAL OF INHERITED METABOLIC DISEASE, 2001, 24 (04) : 517 - 518