GSD type II:: Description of four novel mutations causing acid α-glucosidase deficiency.

被引：0
|
作者：
Bali, D [1 ]
McVie-Wylie, AJ [1 ]
Lowery, M [1 ]
Faulkner, E [1 ]
Lamson, D [1 ]
Chen, YT [1 ]
机构：
[1] Duke Univ, Med Ctr, Div Med Genet, Durham, NC 27710 USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69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：
2706
引用
收藏
页码：641 / 641
页数：1
相关论文
共 50 条
  • [1] ADULT VERSUS INFANTILE GLYCOGENOSIS TYPE II(GSD II) - DIFFERENCES UNEXPLAINED BY ACID ALPHA-GLUCOSIDASE DEFICIENCY(AGD)
    HUG, G
    SPER, MR
    SCHUBERT, WK
    PEDIATRIC RESEARCH, 1973, 7 (04) : 389 - 389
  • [2] Glycogenosis type II:: identification and expression of three novel mutations in the acid α-glucosidase gene causing the infantile form of the disease
    Montalvo, ALE
    Cariatia, R
    Deganuto, M
    Guerci, V
    Garcia, R
    Ciana, G
    Bembi, B
    Pittis, MG
    MOLECULAR GENETICS AND METABOLISM, 2004, 81 (03) : 203 - 208
  • [3] Mutations in the FTCD gene causing glutamate formiminotransferase deficiency.
    Rosenblatt, DS
    Hilton, JF
    Christensen, K
    Hudson, TJ
    Raby, BA
    Estivill, X
    de la Luna, S
    MacKenzie, RE
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 420 - 420
  • [4] Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II
    L. Wan
    C.-C. Lee
    C.-M. Hsu
    W.-L. Hwu
    C.-C. Yang
    C.-H. Tsai
    F.-J. Tsai
    Journal of Neurology, 2008, 255 : 831 - 838
  • [5] Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II
    Wan, Lei
    Lee, Cheng-Chun
    Hsu, Chin-Moo
    Hwu, Wuh-Liang
    Yang, Chih-Chao
    Tsai, Chang-Hai
    Tsai, Fuu-Jen
    JOURNAL OF NEUROLOGY, 2008, 255 (06) : 831 - 838
  • [6] Transcobalamin II Deficiency in Four Cases with Novel Mutations
    Unal, Sule
    Rupar, Tony
    Yetgin, Sevgi
    Yarali, Nese
    Dursun, Ali
    Gursel, Turkiz
    Cetin, Mualla
    TURKISH JOURNAL OF HEMATOLOGY, 2015, 32 (04) : 317 - 322
  • [7] Novel mutations in ZAP-70 deficiency.
    Elder, ME
    Wang, FL
    Skoda-Smith, S
    Gern, JE
    Wara, DW
    MOLECULAR IMMUNOLOGY, 1998, 35 (11-12) : 714 - 714
  • [8] Identification of novel mutations in 14 probands with galactokinase deficiency.
    Kolosha, V
    Gitzelmann, R
    Ledee, D
    de Cespedes, C
    Anoia, E
    Skach, W
    Buist, N
    Shih, L
    Mitelmann, O
    Tedesco, T
    Nesburn, K
    Casco, T
    Saborio, M
    Trejos, R
    Stambolian, D
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A254 - A254
  • [9] Juvenile-onset glycogen storage disease type II with novel mutations in acid α-glucosidase gene
    Lam, CW
    Yuen, YP
    Chan, KY
    Tong, SF
    Lai, CK
    Chow, TC
    Lee, KC
    Chan, YW
    Martiniuk, F
    NEUROLOGY, 2003, 60 (04) : 715 - 717
  • [10] A novel Naegleria apoptosis-inducer works by causing a thiamin deficiency.
    Lai, EY
    Remillard, SP
    Kuperwasser, N
    Fulton, C
    MOLECULAR BIOLOGY OF THE CELL, 1999, 10 : 445A - 445A
12345