ADULT VERSUS INFANTILE GLYCOGENOSIS TYPE II(GSD II) - DIFFERENCES UNEXPLAINED BY ACID ALPHA-GLUCOSIDASE DEFICIENCY(AGD)

被引:0
|
作者
HUG, G [1 ]
SPER, MR [1 ]
SCHUBERT, WK [1 ]
机构
[1] CHILDRENS HOSP,RES FDN,CINCINNATI,OH
关键词
D O I
暂无
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:389 / 389
页数:1
相关论文
共 50 条
  • [21] IMMUNOCHEMICAL STUDIES OF HUMAN ACID ALPHA-1,4-GLUCOSIDASE IN TYPE-II GLYCOGENOSIS
    BIENVENU, J
    MATHIEU, M
    ENZYME, 1981, 26 (04) : 182 - 190
  • [22] UPTAKE AND STABILITY OF HUMAN AND BOVINE ACID ALPHA-GLUCOSIDASE IN CULTURED FIBROBLASTS AND SKELETAL-MUSCLE CELLS FROM GLYCOGENOSIS TYPE-II PATIENTS
    REUSER, AJJ
    KROOS, MA
    PONNE, NJ
    WOLTERMAN, RA
    LOONEN, MCB
    BUSCH, HFM
    VISSER, WJ
    BOLHUIS, PA
    EXPERIMENTAL CELL RESEARCH, 1984, 155 (01) : 178 - 189
  • [23] 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
  • [24] Muscle as a putative producer of acid α-glucosidase for glycogenosis type II gene therapy
    Martin-Touaux, E
    Puech, JP
    Château, D
    Emiliani, C
    Kremer, EJ
    Raben, N
    Tancini, B
    Orlacchio, A
    Kahn, A
    Poenaru, L
    HUMAN MOLECULAR GENETICS, 2002, 11 (14) : 1637 - 1645
  • [25] IMMUNOCHEMICAL STUDY OF ACID ALPHA-1,4-GLUCOSIDASE IN 7 PATIENTS WITH TYPE-II GLYCOGENOSIS
    BIENVENU, J
    MATHIEU, M
    COLLOMBEL, C
    BALTASSAT, P
    DIVRY, P
    DORCHE, C
    COTTE, J
    PEDIATRIE, 1979, 34 (06): : 659 - 676
  • [26] BIOCHEMICAL GENETICS OF THE LAPLAND DOG-MODEL OF GLYCOGEN-STORAGE DISEASE TYPE-II (ACID ALPHA-GLUCOSIDASE DEFICIENCY)
    WALVOORT, HC
    SLEE, RG
    SLUIS, KJ
    KOSTER, JF
    REUSER, AJJ
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 19 (03): : 589 - 598
  • [27] ADULT AND INFANTILE GLYCOGENOSIS TYPE-II IN ONE FAMILY, EXPLAINED BY ALLELIC DIVERSITY
    HOEFSLOOT, LH
    VANDERPLOEG, AT
    KROOS, MA
    HOOGEVEENWESTERVELD, M
    OOSTRA, BA
    REUSER, AJJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1990, 46 (01) : 45 - 52
  • [28] A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II
    Kroos, MA
    Waitfield, AE
    Joosse, M
    Winchester, B
    Reuser, AJJ
    MacDermot, KD
    JOURNAL OF INHERITED METABOLIC DISEASE, 1997, 20 (04) : 556 - 558
  • [29] BIOCHEMICAL DIAGNOSIS OF GLYCOGENOSIS TYPE-II (ACID MALTASE DEFICIENCY)
    PILZ, H
    GOEBEL, HH
    STEFAN, H
    SEIDEL, D
    KOHLSCHUTTER, A
    JOURNAL OF CLINICAL CHEMISTRY AND CLINICAL BIOCHEMISTRY, 1977, 15 (12): : 705 - 708
  • [30] OBSERVATIONS ON ALPHA GLUCOSIDASE IN NORMAL HUMAN TISSUES AND RED CELLS AND PATIENTS WITH TYPE II GLYCOGENOSIS
    WEEKS, JW
    SIDBURY, JB
    SOUTHERN MEDICAL JOURNAL, 1962, 55 (12) : 1335 - &