MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY - ABNORMAL POLYSACCHARIDE IN A CASE OF LATE-ONSET MYOPATHY

被引:71
作者
HAYS, AP
HALLETT, M
DELFS, J
MORRIS, J
SOTREL, A
SHEVCHUK, MM
DIMAURO, S
机构
[1] COLUMBIA PRESBYTERIAN MED CTR,DEPT PATHOL,DIV NEUROPATHOL,NEW YORK,NY 10032
[2] COLUMBIA PRESBYTERIAN MED CTR,DEPT NEUROL,NEW YORK,NY 10032
[3] BRIGHAM & WOMENS HOSP,BOSTON,MA
[4] HARVARD UNIV,SCH MED,SCH MED,DEPT NEUROL,BOSTON,MA 02115
[5] HARVARD UNIV,SCH MED,SCH MED,DEPT PATHOL,BOSTON,MA 02115
关键词
D O I
10.1212/WNL.31.9.1077
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:1077 / 1086
页数:10
相关论文
共 47 条
[1]   MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY - 2 CASES WITH UNUSUAL POLYSACCHARIDE ACCUMULATION AND IMMUNOLOGICALLY ACTIVE ENZYME PROTEIN [J].
AGAMANOLIS, DP ;
ASKARI, AD ;
DIMAURO, S ;
HAYS, A ;
KUMAR, K ;
LIPTON, M ;
RAYNOR, A .
MUSCLE & NERVE, 1980, 3 (06) :456-467
[2]  
BAILEY JM, 1961, J BIOL CHEM, V236, P969
[3]   HISTOCHEMICAL DIAGNOSIS OF MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY [J].
BONILLA, E ;
SCHOTLAND, DL .
ARCHIVES OF NEUROLOGY, 1970, 22 (01) :8-+
[4]   BIOSYNTHESIS OF BACTERIAL GLYCOGEN - PURIFICATION AND PROPERTIES OF ESCHERICHIA-COLI-B ALPHA-1,4-GLUCAN-ALPHA-1,4-GLUCAN 6-GLYCOSYLTRANSFERASE [J].
BOYER, C ;
PREISS, J .
BIOCHEMISTRY, 1977, 16 (16) :3693-3699
[5]   LAFORAS DISEASE - PEROXISOMAL STORAGE IN SKELETAL-MUSCLE [J].
CARPENTER, S ;
KARPATI, G ;
ANDERMANN, F ;
JACOB, JC ;
ANDERMANN, E .
NEUROLOGY, 1974, 24 (06) :531-538
[6]   MUSCLE IN LAFORA DISEASE [J].
COLEMAN, DL ;
GAMBETTI, P ;
DIMAURO, S ;
BLUME, RE .
ARCHIVES OF NEUROLOGY, 1974, 31 (06) :396-406
[7]   CONTROL OF GLYCOGEN METABOLISM IN HUMAN MUSCLE - EVIDENCE FROM GLYCOGEN STORAGE DISEASES [J].
DIMAURO, S ;
ROWLAND, LP ;
DIMAURO, PM .
ARCHIVES OF NEUROLOGY, 1970, 23 (06) :534-&
[8]   MYOADENYLATE DEAMINASE DEFICIENCY - MUSCLE BIOPSY AND MUSCLE CULTURE IN A PATIENT WITH GOUT [J].
DIMAURO, S ;
MIRANDA, AF ;
HAYS, AP ;
FRANCK, WA ;
HOFFMAN, GS ;
SCHOENFELDT, RS ;
SINGH, N .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1980, 47 (02) :191-202
[9]   DEBRANCHER DEFICIENCY - NEUROMUSCULAR DISORDER IN 5 ADULTS [J].
DIMAURO, S ;
HARTWIG, GB ;
HAYS, A ;
EASTWOOD, AB ;
FRANCO, R ;
OLARTE, M ;
CHANG, M ;
ROSES, AD ;
FETELL, M ;
SCHOENFELDT, RS ;
STERN, LZ .
ANNALS OF NEUROLOGY, 1979, 5 (05) :422-436
[10]  
DIMAURO S, 1979, HDB CLIN NEUROLOGY, V41, P175