MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY - 2 CASES WITH UNUSUAL POLYSACCHARIDE ACCUMULATION AND IMMUNOLOGICALLY ACTIVE ENZYME PROTEIN

被引:68
作者
AGAMANOLIS, DP
ASKARI, AD
DIMAURO, S
HAYS, A
KUMAR, K
LIPTON, M
RAYNOR, A
机构
[1] ST LUKES HOSP,DIV RHEUMATOL,CLEVELAND,OH 44104
[2] ST LUKES HOSP,DEPT PATHOL,CLEVELAND,OH 44104
[3] CASE WESTERN RESERVE UNIV,SCH MED,CLEVELAND,OH 44106
[4] COLUMBIA UNIV COLL PHYS & SURG,H HOUSTON MERRIT CLIN RES CTR,NEW YORK,NY 10032
[5] COLUMBIA UNIV COLL PHYS & SURG,H HOUSTON MERRIT CLIN RES CTR,NEW YORK,NY 10032
关键词
D O I
10.1002/mus.880030602
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:456 / 467
页数:12
相关论文
共 30 条
[1]   HISTOCHEMICAL DIAGNOSIS OF MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY [J].
BONILLA, E ;
SCHOTLAND, DL .
ARCHIVES OF NEUROLOGY, 1970, 22 (01) :8-+
[2]   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
[4]   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-&
[5]   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
[6]  
DIMAURO S, HDB CLIN NEUROLOGY, V42
[7]  
DRABKIN DL, 1932, J BIOL CHEM, V98, P713
[8]  
DUPOND JL, 1977, NOUV PRESSE MED, V6, P2665
[9]   HEREDITARY HEMOLYTIC-ANEMIA WITH ERYTHROCYTE PHOSPHOFRUCTOKINASE DEFICIENCY - STUDIES OF SOME PROPERTIES OF ERYTHROCYTE AND MUSCLE ENZYME [J].
ETIEMBLE, J ;
KAHN, A ;
BOIVIN, P ;
BERNARD, JF ;
GOUDEMAND, M .
HUMAN GENETICS, 1976, 31 (01) :83-91
[10]  
GUIBAUD P, 1978, ARCH FR PEDIATR, V35, P1105