MUSCLE CARNITINE PALMITYLTRANSFERASE DEFICIENCY - CASE WITH ENZYME DEFICIENCY IN CULTURED FIBROBLASTS

被引：31

作者：

DIDONATO, S ^{[1
]}

CORNELIO, F ^{[1
]}

PACINI, L ^{[1
]}

PELUCHETTI, D ^{[1
]}

RIMOLDI, M ^{[1
]}

SPREAFICO, S ^{[1
]}

机构：

[1] IST RIC FARMACOL MARIO NEGRI,I-20157 MILAN,ITALY

来源：

ANNALS OF NEUROLOGY | 1978年 / 4卷 / 05期

关键词：

D O I：

10.1002/ana.410040513

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：465 / 467

页数：3

共 15 条

[1] DISORDER OF MUSCLE LIPID-METABOLISM AND MYOGLOBINURIA - ABSENCE OF CARNITINE PALMITYL TRANSFERASE [J].

BANK, WJ ;

DIMAURO, S ;

BONILLA, E ;

CAPUZZI, DM ;

ROWLAND, LP .

NEW ENGLAND JOURNAL OF MEDICINE, 1975, 292 (09) :443-449

[2] FATAL SYSTEMIC CARNITINE DEFICIENCY WITH LIPID STORAGE IN SKELETAL-MUSCLE, HEART, LIVER AND KIDNEY [J].

BOUDIN, G ;

MIKOL, J ;

GUILLARD, A ;

ENGEL, AG .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1976, 30 (2-3) :313-325

[3] METHOD FOR DETERMINATION OF CARNITINE IN PICOMOLE RANGE [J].

CEDERBLA.G ;

LINDSTED.S .

CLINICA CHIMICA ACTA, 1972, 37 (NMAR) :235-&

[4] 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

[5]

CRABTREE B, 1972, BIOCHEM J, V130, P697, DOI 10.1042/bj1300697

[6] CARNITINE-PALMITYL-TRANSFERASE DEFICIENCY [J].

CUMMING, WJK ;

HARDY, M ;

HUDGSON, P ;

WALLS, J .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1976, 30 (2-3) :247-258

[7] MUSCLE CARNITINE PALMITYLTRANSFERASE DEFICIENCY AND MYOGLOBINURIA [J].

DIMAURO, S ;

DIMAURO, PMM .

SCIENCE, 1973, 182 (4115) :929-931

[8] CARNITINE DEFICIENCY OF HUMAN SKELETAL-MUSCLE WITH ASSOCIATED LIPID STORAGE MYOPATHY - NEW SYNDROME [J].

ENGEL, AG ;

ANGELINI, C .

SCIENCE, 1973, 179 (4076) :899-902

[9]

HERMAN G, 1977, J PEDIATR, V2, P247

[10]

HOPPEL CL, 1976, ENZYMES BIOL MEMBR, V2, P119

← 1 2 →