PHOSPHORYLASE-B KINASE-DEFICIENCY IN A BOY WITH GLYCOGENOSIS AFFECTING BOTH LIVER AND MUSCLE

被引:11
|
作者
MADLOM, M
BESLEY, GTN
COHEN, PTW
MARRIAN, VJ
机构
[1] NINEWELLS HOSP,DEPT PAEDIAT,DUNDEE DD1 9SY,SCOTLAND
[2] ROYAL HOSP SICK CHILDREN,DEPT PATHOL,EDINBURGH EH9 1LF,MIDLOTHIAN,SCOTLAND
[3] UNIV DUNDEE,DEPT BIOCHEM,DUNDEE DD1 4HN,SCOTLAND
[4] PERTH ROYAL INFIRM,DEPT PAEDIAT,PERTH PH1 1NX,SCOTLAND
关键词
D O I
10.1007/BF02024335
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:52 / 53
页数:2
相关论文
共 50 条
  • [1] PHOSPHORYLASE-B KINASE-DEFICIENCY GLYCOGENOSIS WITH CIRRHOSIS OF THE LIVER
    KAGALWALLA, AF
    KAGALWALLA, YA
    ALAJAJI, S
    GORKA, W
    ASHRAF, M
    JOURNAL OF PEDIATRICS, 1995, 127 (04): : 602 - 605
  • [2] ADULT MUSCLE PHOSPHORYLASE-B KINASE-DEFICIENCY
    ABARBANEL, JM
    BASHAN, N
    POTASHNIK, R
    OSIMANI, A
    MOSES, SW
    HERISHANU, Y
    NEUROLOGY, 1986, 36 (04) : 560 - 562
  • [3] ADULT MUSCLE PHOSPHORYLASE-B KINASE-DEFICIENCY
    ABARBANEL, JM
    BASHAN, N
    POTASHNIK, R
    MOSES, SW
    HERISHANU, Y
    MUSCLE & NERVE, 1986, 9 (05) : 185 - 185
  • [4] FANCONIS-SYNDROME WITH HEPATORENAL GLYCOGENOSIS ASSOCIATED WITH PHOSPHORYLASE-B KINASE-DEFICIENCY
    SANJAD, SA
    KADDOURA, RE
    NAZER, HM
    AKHTAR, M
    SAKATI, NA
    AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1993, 147 (09): : 957 - 959
  • [5] ADULT PHOSPHORYLASE-B KINASE-DEFICIENCY
    CLEMENS, PR
    YAMAMOTO, M
    ENGEL, AG
    ANNALS OF NEUROLOGY, 1990, 28 (04) : 529 - 538
  • [6] PHOSPHORYLASE-B KINASE-DEFICIENCY IN MAN - A REVIEW
    VANDENBERG, IET
    BERGER, R
    JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (04) : 442 - 451
  • [7] CASE OF GLYCOGEN-STORAGE DISEASE DUE TO LIVER AND MUSCLE PHOSPHORYLASE-B KINASE-DEFICIENCY
    BASHAN, N
    GORODISCHER, R
    IANCU, PC
    LERNER, A
    MOSES, S
    PEDIATRIC RESEARCH, 1979, 13 (04) : 367 - 367
  • [8] FACTOR-XI AND PHOSPHORYLASE-B KINASE-DEFICIENCY
    SOLDER, B
    PECHLANER, C
    SPERL, W
    SKLADAL, D
    KUNZ, F
    SHIN, YS
    JOURNAL OF INHERITED METABOLIC DISEASE, 1995, 18 (01) : 89 - 90
  • [9] MYOPATHIC EVOLUTION OF AN EXERTIONAL MUSCLE PAIN SYNDROME WITH PHOSPHORYLASE-B KINASE-DEFICIENCY
    CARRIER, H
    MAIRE, I
    VIAL, C
    RAMBAUD, G
    FLOCARD, F
    FLECHAIRE, A
    ACTA NEUROPATHOLOGICA, 1990, 81 (01) : 84 - 88
  • [10] CHARACTERIZATION OF PHOSPHORYLASE-B TO PHOSPHORYLASE-A CONVERTING ACTIVITY IN SKELETAL-MUSCLE EXTRACTS OF MICE WITH PHOSPHORYLASE-B KINASE-DEFICIENCY MUTATION
    GROSS, SR
    MAYER, SE
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1974, 249 (21) : 6710 - 6718