POMPES DISEASE WITH NORMAL LEUKOCYTE ACID ALPHA-1,4-GLUCOSIDASE ACTIVITY - ENZYME AND GLYCOGEN IN TISSUES AND CULTURED-CELLS

被引:0
|
作者
HIEBER, VC [1 ]
SCHMICKEL, RD [1 ]
机构
[1] UNIV MICHIGAN, MED SCH, DEPT PEDIAT, ANN ARBOR, MI USA
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:433 / 433
页数:1
相关论文
共 47 条
  • [31] ALPHA-1,4-GLUCOSIDASE ACTIVITY AND THE PRESENCE OF GERMINAL EPITHELIUM-CELLS IN THE SEMEN FOR DIFFERENTIAL-DIAGNOSIS OF OBSTRUCTIVE AND NONOBSTRUCTIVE AZOOSPERMIA
    SANDOVAL, L
    DIAZ, M
    RIVAS, F
    ARCHIVES OF ANDROLOGY, 1995, 35 (02): : 155 - 158
  • [32] Novel Mutations in the Gene Encoding Acid α-1,4-glucosidase in a Patient with Late-onset Glycogen Storage Disease Type II (Pompe Disease) with Impaired Intelligence
    Muraoka, Tomie
    Murao, Koji
    Imachi, Hitomi
    Kikuchi, Fumi
    Yoshimoto, Takuo
    Iwama, Hisakazu
    Hosokawa, Hitoshi
    Nishino, Ichizo
    Fukuda, Tokiko
    Sugie, Hideo
    Adachi, Kaori
    Nanba, Eiji
    Ishida, Toshihiko
    INTERNAL MEDICINE, 2011, 50 (24) : 2987 - 2991
  • [33] VACUOLAR MYOPATHY WITH TYPE-2 A FIBER ATROPHY AND TYPE-2 B FIBER DEFICIENCY - A CASE OF CHILDHOOD FORM ACID ALPHA-1,4-GLUCOSIDASE DEFICIENCY
    MATSUISHI, T
    TERASAWA, K
    YOSHIDA, I
    YANO, E
    YAMASHITA, F
    HIDAKA, T
    ISHIHARA, O
    YOSHINO, M
    NONAKA, I
    KUROKAWA, T
    NAKAMURA, Y
    NEUROPEDIATRICS, 1982, 13 (04) : 173 - 176
  • [34] Glycogen storage disease with normal acid alpha-glucosidase activity.: A case study with successful heart transplant and associated inherited ocular disease
    Delisle, MB
    Lacoste-Collin, L
    Uro-Coste, E
    Arné-Bes, MC
    Durand, D
    Levade, T
    BRAIN PATHOLOGY, 2000, 10 (04) : 544 - 544
  • [36] Expression of catalytically active human multifunctional glycogen-debranching enzyme and lysosomal acid alpha-glucosidase in insect cells
    Wu, JY
    VanHove, JLK
    Huang, YS
    Chen, YT
    BIOCHEMISTRY AND MOLECULAR BIOLOGY INTERNATIONAL, 1996, 39 (04): : 755 - 764
  • [37] EXPRESSION OF CATALYTICALLY ACTIVE HUMAN MULTIFUNCTIONAL GLYCOGEN-DEBRANCHING ENZYME AND LYSOSOMAL ACID ALPHA-GLUCOSIDASE IN INSECT CELLS
    WU, JY
    VANHOVE, JLK
    HUANG, YS
    ZHANG, W
    CHEN, YT
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 963 - 963
  • [38] STUDIES OF GLYCOGEN BRANCHING ENZYME - PREPARATION AND PROPERTIES OF ALPHA-1,4-GLUCAN-ALPHA-1,4-GLUCAN 6-GLYCOSYLTRANSFERASE AND ITS ACTION ON CHARACTERISTIC POLYSACCHARIDE OF LIVER OF CHILDREN WITH TYPE-IV GLYCOGEN STORAGE DISEASE
    GIBSON, WB
    BROWN, BI
    BROWN, DH
    BIOCHEMISTRY, 1971, 10 (23) : 4253 - &
  • [39] INFANTILE LYSOSOMAL GLYCOGEN-STORAGE DISORDER (PSEUDO-POMPE DISEASE) WITH NORMAL ACID A-GLUCOSIDASE ACTIVITY
    VERLOES, A
    GRATTAGLIANO, B
    VIVARIO, M
    SOVEUR, D
    SCHOOS, R
    KOULISCHER, L
    RIGO, J
    DEBARSY, T
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 108 - 108
  • [40] CHANGE IN PH-4 AND PH-6 FORMS OF ALPHA-GLUCOSIDASE IN CULTURED AMNIOTIC-FLUID CELLS AND ITS IMPLICATION IN PRENATAL DIAGNOSIS OF POMPES DISEASE
    FUJIMOTO, A
    FLUHARTY, AL
    CLINICA CHIMICA ACTA, 1978, 90 (02) : 157 - 161