ACID MALTASE DEFICIENCY IN ADULTS - DIAGNOSIS AND MANAGEMENT IN 5 CASES

被引:64
作者
TREND, PSJ
WILES, CM
SPENCER, GT
MORGANHUGHES, JA
LAKE, BD
PATRICK, AD
机构
[1] ST THOMAS HOSP,DEPT NEUROL,LONDON SE1 7EH,ENGLAND
[2] NATL HOSP,RESP UNIT,LONDON WC1N 3BG,ENGLAND
[3] HOSP SICK CHILDREN,DEPT HISTOPATHOL,LONDON WC1N 3JH,ENGLAND
[4] INST CHILD HLTH,ENZYME RES LAB,LONDON WC1N 1EH,ENGLAND
关键词
D O I
10.1093/brain/108.4.845
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:845 / 860
页数:16
相关论文
共 58 条
[31]   ADULT MYOPATHY FROM GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY [J].
HUDGSON, P ;
GARDNERM.D ;
WORSFOLD, M ;
PENNINGTON, RJ ;
WALTON, JN .
BRAIN, 1968, 91 :435-+
[32]   LYSOSOMES IN TYPE 2 GLYCOGENOSIS [J].
HUG, G ;
SCHUBERT, WK .
JOURNAL OF CELL BIOLOGY, 1967, 35 (01) :C1-&
[33]   DIAGNOSIS OF GENERALIZED GLYCOGEN STORAGE DISEASE (POMPES DISEASE) [J].
HUIJING, F ;
VANCREVELD, S ;
LOSEKOOT, G .
JOURNAL OF PEDIATRICS, 1963, 63 (05) :984-+
[34]   RESPIRATORY-FAILURE AS INITIAL SYMPTOM OF ACID MALTASE DEFICIENCY [J].
KEUNEN, RWM ;
LAMBREGTS, PCLA ;
OPDECOUL, AAW ;
JOOSTEN, EMG .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1984, 47 (05) :549-552
[35]  
LAUER RM, 1968, PEDIATRICS, V42, P672
[36]   ADULT-ONSET ACID MALTASE DEFICIENCY - CASE-REPORT OF AN ADULT WITH SEVERE RESPIRATORY DIFFICULTY [J].
LIGHTMAN, NI ;
SCHOOLEY, RT .
CHEST, 1977, 72 (02) :250-252
[37]   RESPIRATORY IMPROVEMENT BY MUSCLE TRAINING IN ADULT ONSET ACID MALTASE DEFICIENCY [J].
MARTIN, RJ ;
SUFIT, RL ;
RINGEL, SP ;
HUDGEL, DW ;
HILL, PL .
MUSCLE & NERVE, 1983, 6 (03) :201-203
[38]   RESIDUAL ACID MALTASE ACTIVITY IN LATE-ONSET ACID MALTASE DEFICIENCY [J].
MEHLER, M ;
DIMAURO, S .
NEUROLOGY, 1977, 27 (02) :178-184
[39]  
MORGAN-HUGHES J A, 1970, Brain Behavior and Evolution, V93, P873, DOI 10.1093/brain/93.4.873
[40]  
NITOWSKY HM, 1967, J LAB CLIN MED, V69, P472