PROGRESSIVE NEUROPATHY AND RECURRENT MYOGLOBINURIA IN A CHILD WITH LONG-CHAIN 3-HYDROXYACYL COENZYME-A DEHYDROGENASE-DEFICIENCY

被引:60
作者
VICI, CD
BURLINA, AB
BERTINI, E
BACHMANN, C
MAZZIOTTA, MRM
ZACCHELLO, F
SABETTA, G
HALE, DE
机构
[1] CHILDRENS HOSP PHILADELPHIA, DIV ENDOCRINOL & DIABET, 34TH ST 1 CIV CTR BLVD, PHILADELPHIA, PA 19104 USA
[2] BAMBINO GESU PEDIAT HOSP, IST RIC E CURA CARATTERE SCI, DEPT METAB, ROME, ITALY
[3] UNIV PADUA, DEPT PEDIAT, I-35100 PADUA, ITALY
[4] UNIV LAUSANNE, CHU VACIDOIS, DEPT CLIN CHEM, CH-1000 LAUSANNE 17, SWITZERLAND
关键词
D O I
10.1016/S0022-3476(05)80039-3
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
[No abstract available]
引用
收藏
页码:744 / 746
页数:3
相关论文
共 7 条
[1]   LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY - BIOCHEMICAL-STUDIES IN FIBROBLASTS FROM 3 PATIENTS [J].
AMENDT, BA ;
MOON, A ;
TEEL, L ;
RHEAD, WJ .
PEDIATRIC RESEARCH, 1988, 23 (06) :603-605
[2]  
BURLINA AB, 1986, RIV ITAL PED, V12, P541
[3]   HYPOGLYCEMIA, HEPATIC-DYSFUNCTION, MUSCLE WEAKNESS, CARDIOMYOPATHY, FREE CARNITINE DEFICIENCY AND LONG-CHAIN ACYLCARNITINE EXCESS RESPONSIVE TO MEDIUM CHAIN TRIGLYCERIDE DIET [J].
GLASGOW, AM ;
ENGEL, AG ;
BIER, DM ;
PERRY, LW ;
DICKIE, M ;
TODARO, J ;
BROWN, BI ;
UTTER, MF .
PEDIATRIC RESEARCH, 1983, 17 (05) :319-326
[4]   LONG-CHAIN ACYL COENZYME-A DEHYDROGENASE-DEFICIENCY - AN INHERITED CAUSE OF NONKETOTIC HYPOGLYCEMIA [J].
HALE, DE ;
BATSHAW, ML ;
COATES, PM ;
FRERMAN, FE ;
GOODMAN, SI ;
SINGH, I ;
STANLEY, CA .
PEDIATRIC RESEARCH, 1985, 19 (07) :666-671
[5]  
HALE DE, 1990, PROG CLIN BIOL RES, V321, P503
[6]   ABNORMALITIES OF FATTY-ACID OXIDATION [J].
NYHAN, WL .
NEW ENGLAND JOURNAL OF MEDICINE, 1988, 319 (20) :1344-1346
[7]   SUDDEN INFANT DEATH AND LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE [J].
WANDERS, RJA ;
DURAN, M ;
IJLST, L ;
DEJAGER, JP ;
VANGENNIP, AH ;
JAKOBS, C ;
DORLAND, L ;
VANSPRANG, FJ .
LANCET, 1989, 2 (8653) :52-53