EVIDENCE FOR AUTOSOMAL RECESSIVE INHERITANCE IN SYSTEMIC CARNITINE DEFICIENCY

被引:11
作者
DIDONATO, S
RIMOLDI, M
CORNELIO, F
BOTTACCHI, E
GIUNTA, A
机构
[1] IST NEUROL C BESTA,MYOPATHOL LAB,I-20133 MILAN,ITALY
[2] UNIV MILAN,PEDIAT CLIN,CHAIR 2,I-20133 MILAN,ITALY
关键词
D O I
10.1002/ana.410110214
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:190 / 192
页数:3
相关论文
共 9 条
[1]   SYSTEMIC CARNITINE DEFICIENCY - A TREATABLE INHERITED LIPID-STORAGE DISEASE PRESENTING AS REYES-SYNDROME [J].
CHAPOY, PR ;
ANGELINI, C ;
BROWN, WJ ;
STIFF, JE ;
SHUG, AL ;
CEDERBAUM, SD .
NEW ENGLAND JOURNAL OF MEDICINE, 1980, 303 (24) :1389-1394
[2]   FATAL CASES OF LIPID STORAGE MYOPATHY WITH CARNITINE DEFICIENCY [J].
CORNELIO, F ;
DIDONATO, S ;
PELUCHETTI, D ;
BIZZI, A ;
BERTAGNOLIO, B ;
DANGELO, A ;
WIESMANN, U .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1977, 40 (02) :170-178
[3]  
DIDONATO S, 1980, CLIN CHIM ACTA, V512, P557
[4]   DISORDERS OF LIPID-METABOLISM IN MUSCLE [J].
DIMAURO, S ;
TREVISAN, C ;
HAYS, A .
MUSCLE & NERVE, 1980, 3 (05) :369-388
[5]   CARNITINE DEFICIENCY - CLINICAL, MORPHOLOGICAL, AND BIOCHEMICAL OBSERVATIONS IN A FATAL CASE [J].
ENGEL, AG ;
BANKER, BQ ;
EIBEN, RM .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1977, 40 (04) :313-322
[6]  
ENGEL AG, 1980, NEUROLOGY, V30, P368
[7]   ROLE OF CARNITINE IN HEPATIC KETOGENESIS [J].
MCGARRY, JD ;
ROBLESVALDES, C ;
FOSTER, DW .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1975, 72 (11) :4385-4388
[8]   CARNITINE-INDUCED UPTAKE OF L-CARNITINE INTO CELLS FROM AN ESTABLISHED CELL LINE FROM HUMAN HEART (CCL 27) [J].
MOLSTAD, P ;
BOHMER, T ;
HOVIG, T .
BIOCHIMICA ET BIOPHYSICA ACTA, 1978, 512 (03) :557-565
[9]  
REBOUCHE CJ, 1980, NEUROLOGY, V30, P368