GLYCOGEN-STORAGE DISEASE, FANCONI NEPHROPATHY, ABNORMAL GALACTOSE METABOLISM AND MITOCHONDRIAL MYOPATHY

被引:8
作者
HURVITZ, H
ELPELEG, ON
BARASH, V
KEREM, E
REIFEN, RM
RUITENBEEK, W
MOR, C
BRANSKI, D
机构
[1] HADASSAH UNIV HOSP,CLIN BIOCHEM LAB,IL-91120 JERUSALEM,ISRAEL
[2] ACAD HOSP NIJMEGEN,DEPT PAEDIAT,NIJMEGEN,NETHERLANDS
[3] BEILINSON MED CTR,DEPT CLIN PATHOL,PETAH TIQWA,ISRAEL
关键词
D O I
10.1007/BF02024334
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:48 / 51
页数:4
相关论文
共 32 条
[1]   FAMILIAL FANCONI SYNDROME WITH MALABSORPTION AND GALACTOSE INTOLERANCE, NORMAL KINASE AND TRANSFERASE-ACTIVITY - A REPORT ON 2 SIBLINGS [J].
APERIA, A ;
BERGQVIST, G ;
LINNE, T ;
ZETTERSTROM, R .
ACTA PAEDIATRICA SCANDINAVICA, 1981, 70 (04) :527-533
[2]  
BAUER B, 1986, KLIN WOCHENSCHR, V46, P317
[3]  
BENALLEG.A, 1971, ARCH FR PEDIATR, V28, P566
[4]  
BENALLEGUE A, 1975, ARCH FR PEDIATR, V32, P202
[5]   DEFECTIVE GALACTOSE OXIDATION IN A PATIENT WITH GLYCOGEN-STORAGE DISEASE AND FANCONI SYNDROME [J].
BRIVET, M ;
MOATTI, N ;
CORRIAT, A ;
LEMONNIER, A ;
ODIEVRE, M .
PEDIATRIC RESEARCH, 1983, 17 (02) :157-161
[6]  
CHESNEY RW, 1981, PEDIATRICS, V67, P113
[7]  
Colowick S, 1966, METHOD ENZYMOL, P525
[8]   FATAL INFANTILE MITOCHONDRIAL MYOPATHY AND RENAL DYSFUNCTION DUE TO CYTOCHROME-C-OXIDASE DEFICIENCY [J].
DIMAURO, S ;
MENDELL, JR ;
SAHENK, Z ;
BACHMAN, D ;
SCARPA, A ;
SCOFIELD, RM ;
REINER, C .
NEUROLOGY, 1980, 30 (08) :795-804
[9]  
FACONI G, 1949, HELV PAEDIATR ACTA, V4, P359
[10]   A MITOCHONDRIAL ENCEPHALOMYOPATHY - THE 1ST CASE WITH AN ESTABLISHED DEFECT AT THE LEVEL OF COENZYME-Q [J].
FISCHER, JC ;
RUITENBEEK, W ;
GABREELS, FJM ;
JANSSEN, AJM ;
RENIER, WO ;
SENGERS, RCA ;
STADHOUDERS, AM ;
TERLAAK, HJ ;
TRIJBELS, JMF ;
VEERKAMP, JH .
EUROPEAN JOURNAL OF PEDIATRICS, 1986, 144 (05) :441-444