MYOPATHY DUE TO GLYCOGEN-STORAGE DISEASE - PATHOLOGICAL AND BIOCHEMICAL-STUDIES IN RELATION TO GLYCOGENOSOME FORMATION

被引:25
|
作者
IWAMASA, T
FUKUDA, S
TOKUMITSU, S
NINOMIYA, N
MATSUDA, I
OSAME, M
机构
[1] KUMAMOTO UNIV, SCH MED, DEPT PEDIAT, KUMAMOTO 860, JAPAN
[2] KAGOSHIMA UNIV, SCH MED, DEPT BUNKYO KU, KAGOSHIMA 890, JAPAN
关键词
D O I
10.1016/0014-4800(83)90080-1
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
引用
收藏
页码:405 / 420
页数:16
相关论文
共 50 条
  • [31] GLYCOGEN-STORAGE DISEASE TYPE-1B DUE TO A DEFECT OF GLUCOSE-6-PHOSPHATE TRANSLOCASE
    NARISAWA, K
    OTOMO, H
    IGARASHI, Y
    ARAI, N
    OTAKE, M
    TADA, K
    KUZUYA, T
    JOURNAL OF INHERITED METABOLIC DISEASE, 1982, 5 (04) : 227 - 228
  • [32] Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes
    Zampieri, Stefania
    Buratti, Emanuele
    Dominissini, Silvia
    Montalvo, Anna Lisa
    Pittis, Maria Gabriela
    Bembi, Bruno
    Dardis, Andrea
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (04) : 422 - 431
  • [33] Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes
    Stefania Zampieri
    Emanuele Buratti
    Silvia Dominissini
    Anna Lisa Montalvo
    Maria Gabriela Pittis
    Bruno Bembi
    Andrea Dardis
    European Journal of Human Genetics, 2011, 19 : 422 - 431
  • [34] GLYCOGEN-STORAGE-DISEASE TYPE-III (GLYCOGEN DEBRANCHING ENZYME DEFICIENCY) - CORRELATION OF BIOCHEMICAL DEFECTS WITH MYOPATHY AND CARDIOMYOPATHY
    COLEMAN, RA
    WINTER, HS
    WOLF, B
    GILCHRIST, JM
    CHEN, YT
    ANNALS OF INTERNAL MEDICINE, 1992, 116 (11) : 896 - 900
  • [35] NIEMANN-PICK DISEASE TYPE-C - PATHOLOGICAL, HISTOCHEMICAL, ULTRASTRUCTURAL AND BIOCHEMICAL-STUDIES
    GILBERT, EF
    CALLAHAN, J
    VISESKUL, C
    OPITZ, JM
    EUROPEAN JOURNAL OF PEDIATRICS, 1981, 136 (03) : 263 - 274
  • [36] CLINICAL AND BIOCHEMICAL FINDINGS BEFORE AND AFTER PORTACAVAL-SHUNT IN A GIRL WITH TYPE-IB GLYCOGEN-STORAGE DISEASE
    CORBEEL, L
    HUE, L
    LEDERER, B
    DEBARSY, T
    VANDENBERGHE, G
    DEVLIEGER, H
    JAEKEN, J
    BRACKE, P
    EECKELS, R
    PEDIATRIC RESEARCH, 1981, 15 (01) : 58 - 61
  • [37] CHOLESTEROL ESTER STORAGE DISEASE - CLINICAL, BIOCHEMICAL, AND PATHOLOGICAL-STUDIES
    BEAUDET, AL
    FERRY, GD
    NICHOLS, BL
    ROSENBERG, HS
    JOURNAL OF PEDIATRICS, 1977, 90 (06): : 910 - 914
  • [38] BIOCHEMICAL-STUDIES IN A PATIENT WITH SUBACUTE NEUROPATHIC GAUCHER DISEASE WITHOUT VISCERAL GLUCOSYLCERAMIDE STORAGE
    WENGER, DA
    ROTH, S
    KUDOH, T
    GROVER, WD
    TUCKER, SH
    KAYE, EM
    ULLMAN, MD
    PEDIATRIC RESEARCH, 1983, 17 (05) : 344 - 348
  • [39] ADULT ONSET LYSOSOMAL STORAGE DISEASE IN A TIBETAN TERRIER - CLINICAL, MORPHOLOGICAL AND BIOCHEMICAL-STUDIES
    ALROY, J
    SCHELLING, SH
    THALHAMMER, JG
    RAGHAVAN, SS
    NATOWICZ, MR
    PRENCE, EM
    ORGAD, U
    ACTA NEUROPATHOLOGICA, 1992, 84 (06) : 658 - 663
  • [40] SUBCELLULAR FRACTIONATION STUDIES ON HEPATIC TISSUE FROM A PATIENT WITH POMPES DISEASE (TYPE-II GLYCOGEN-STORAGE DISEASE)
    PETERS, TJ
    JENKINS, W
    DUBOWITZ, V
    CLINICAL SCIENCE, 1980, 59 (01) : 7 - 12