PROGRESSIVE FATAL PANCYTOPENIA, PSYCHOMOTOR RETARDATION AND MUSCLE CARNITINE DEFICIENCY IN A CHILD WITH ETHYLMALONIC ACIDURIA AND ETHYLMALONIC ACIDEMIA

被引:10
作者
HOFFMANN, GF
HUNNEMAN, DH
JAKOBS, C
WILICHOWSKI, E
EBER, SW
HANEFELD, F
RATING, D
REICHMANN, H
机构
[1] UNIV GOTTINGEN,DEPT CHILD NEUROL,W-3400 GOTTINGEN,GERMANY
[2] UNIV GOTTINGEN,DEPT PHYSIOL,W-3400 GOTTINGEN,GERMANY
[3] UNIV GOTTINGEN,DEPT PAEDIAT,W-3400 GOTTINGEN,GERMANY
[4] FREE UNIV AMSTERDAM HOSP,DEPT PAEDIAT,AMSTERDAM,NETHERLANDS
[5] UNIV WURZBURG,DEPT NEUROL,W-8700 WURZBURG,GERMANY
关键词
D O I
10.1007/BF01799389
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:337 / 340
页数:4
相关论文
共 8 条
[1]   A NEW DEFECT OF BETA-OXIDATION - SHORT CHAIN ACYL-COA DEHYDROGENASE (SCADH) DEFICIENCY [J].
AMENDT, BA ;
NORBECK, BA ;
MOON, AM ;
RHEAD, WJ .
PEDIATRIC RESEARCH, 1985, 19 (04) :A309-A309
[2]   THE DIAGNOSIS AND BIOCHEMICAL INVESTIGATION OF A PATIENT WITH A SHORT CHAIN FATTY-ACID OXIDATION DEFECT [J].
BENNETT, MJ ;
GRAY, RGF ;
ISHERWOOD, DM ;
MURPHY, N ;
POLLITT, RJ .
JOURNAL OF INHERITED METABOLIC DISEASE, 1985, 8 :135-136
[3]  
BOUJET C, 1983, 21ST P S SSIEM LYON, pA55
[4]   GENETIC DEFICIENCY OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE IN CULTURED FIBROBLASTS FROM A PATIENT WITH MUSCLE CARNITINE DEFICIENCY AND SEVERE SKELETAL-MUSCLE WEAKNESS [J].
COATES, PM ;
HALE, DE ;
FINOCCHIARO, G ;
TANAKA, K ;
WINTER, SC .
JOURNAL OF CLINICAL INVESTIGATION, 1988, 81 (01) :171-175
[5]  
HOFFMANN G, 1989, CLIN CHEM, V35, P587
[6]   ENZYMES OF FATTY-ACID BETA-OXIDATION IN DEVELOPING BRAIN [J].
REICHMANN, H ;
MALTESE, WA ;
DEVIVO, DC .
JOURNAL OF NEUROCHEMISTRY, 1988, 51 (02) :339-344
[7]  
ROTIG A, 1988, LANCET, V2, P567
[8]   SHORT-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY ASSOCIATED WITH A LIPID-STORAGE MYOPATHY AND SECONDARY CARNITINE DEFICIENCY [J].
TURNBULL, DM ;
BARTLETT, K ;
STEVENS, DL ;
ALBERTI, KGMM ;
GIBSON, GJ ;
JOHNSON, MA ;
MCCULLOCH, AJ ;
SHERRATT, HSA .
NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (19) :1232-1236