Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease) (vol 12, pg 159, 2002)

被引：0
|
作者：
Hirschhorn, R [1 ]
机构：
[1] NYU, Sch Med, New York, NY 10016 USA
来源：
NEUROMUSCULAR DISORDERS | 2003年 / 13卷 / 05期
关键词：
D O I：
10.1016/S0960-8966(03)00046-4
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：427 / 427
页数：1
相关论文
共 45 条
  • [31] Detection of a homozygous D645E mutation of the acid α-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II
    Chen, CP
    Lin, SP
    Tzen, CY
    Tsai, FJ
    Hwu, WL
    Wan, WS
    PRENATAL DIAGNOSIS, 2004, 24 (03) : 230 - 232
  • [32] p.D645E of Acid α-Glucosidase Is the Most Common Mutation in Thai Patients with Infantile-Onset Pompe Disease (vol 14, pg 835, 2010)
    Amarinthnukrowh, Pramuk
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2011, 15 (05) : 369 - 369
  • [33] Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III
    Goldstein, Jennifer L.
    Austin, Stephanie L.
    Boyette, Keri
    Kanaly, Angela
    Veerapandiyan, Aravind
    Rehder, Catherine
    Kishnani, Priya S.
    Bali, Deeksha S.
    GENETICS IN MEDICINE, 2010, 12 (07) : 424 - 430
  • [34] Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann-Pick disease type A and B
    Ida, H
    Rennert, OM
    Maekawa, K
    Eto, Y
    HUMAN MUTATION, 1996, 7 (01) : 65 - 67
  • [35] Phase I/II Trial of Diaphragm Delivery of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase (rAAV1-CMV-GAA) Gene Vector in Patients with Pompe Disease
    Byrne, Barry J.
    Smith, Barbara
    Mah, Cathryn
    Lawson, Lee Ann
    Islam, Saleem
    Corti, Manuela
    Martin, Daniel
    Dobija, Nicole
    Irwin, Maria V.
    Conlon, Thomas
    Cleaver, Brian
    Clement, Nathalie
    Collins, Shelley W.
    HUMAN GENE THERAPY CLINICAL DEVELOPMENT, 2014, 25 (03) : 134 - 163
  • [36] Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations (vol 85, pg 8, 1999)
    Huie, ML
    Kasper, JS
    Arn, PH
    Greenberg, CR
    Hirschhorn, R
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 137A (01) : 114 - 114
  • [37] Glycogen-storage disease type II (acid maltase deficiency): Identification of a novel small deletion (delCC482+483) in French patients
    Nicolino, M
    Puech, JP
    Letourneur, F
    Fardeau, M
    Kahn, A
    Poenaru, L
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1997, 235 (01) : 138 - 141
  • [38] Adenovirus-mediated transfer of the acid α-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation
    Nicolino, MP
    Puech, JP
    Kremer, EJ
    Reuser, AJJ
    Mbebi, C
    Verdière-Sahuque, M
    Kahn, A
    Poenaru, L
    HUMAN MOLECULAR GENETICS, 1998, 7 (11) : 1695 - 1702
  • [39] Sustained, high-level expression of human acid alpha-glucosidase and correction of glycogen storage disease type II (GSD II) with an adeno-associated virus 8 (AAV2/8) vector containing a liver-specific promoter
    Franco, LM
    Sun, BD
    Bird, A
    Zhang, HY
    Amalfitano, A
    Chen, YT
    Koeberl, DD
    MOLECULAR THERAPY, 2004, 9 : S129 - S129
  • [40] Glycogen storage disease type II:: Identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid α-glucosidase locus of patients of differing phenotype
    Huie, ML
    Tsujino, S
    Brooks, SS
    Engel, A
    Elias, E
    Bonthron, DT
    Bessley, C
    Shanske, S
    DiMauro, S
    Goto, YI
    Hirschhorn, R
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1998, 244 (03) : 921 - 927
12345