HETEROGENEITY OF CARNITINE-PALMITOYLTRANSFERASE DEFICIENCY

被引：42

作者：

DIDONATO, S ^{[1
]}

CASTIGLIONE, A ^{[1
]}

RIMOLDI, M ^{[1
]}

CORNELIO, F ^{[1
]}

VENDEMIA, F ^{[1
]}

CARDACE, G ^{[1
]}

BERTAGNOLIO, B ^{[1
]}

机构：

[1] OSPED S CARLO,DEPT NEPHROL,MILAN,ITALY

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 1981年 / 50卷 / 02期

关键词：

D O I：

10.1016/0022-510X(81)90167-2

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：207 / 215

页数：9

共 27 条

[1] DISORDER OF MUSCLE LIPID-METABOLISM AND MYOGLOBINURIA - ABSENCE OF CARNITINE PALMITYL TRANSFERASE
BANK, WJ
DIMAURO, S
BONILLA, E
CAPUZZI, DM
ROWLAND, LP
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1975, 292 (09) : 443 - 449
[2] BERTORINI T, 1980, NEUROLOGY MINNEAP, V30, P265
[3] BOUGNERES PF, 1980, NEW ENGL J MED, V302, P123
[4] COLD INDUCED RHABDOMYOLYSIS IN CARNITINE PALMYITYL TRANSFERASE DEFICIENCY
BROWNELL, AKW
SEVERSON, DL
THOMPSON, CD
FLETCHER, T
[J]. CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 1979, 6 (03) : 367 - 370
[5] BIOCHEMICAL AND PHYSIOLOGIC CONSEQUENCES OF CARNITINE PALMITYLTRANSFERASE DEFICIENCY
CARROLL, JE
BROOKE, MH
DEVIVO, DC
KAISER, KK
HAGBERG, JM
[J]. MUSCLE & NERVE, 1978, 1 (02) : 103 - 110
[6] FATAL CASES OF LIPID STORAGE MYOPATHY WITH CARNITINE DEFICIENCY
CORNELIO, F
DIDONATO, S
PELUCHETTI, D
BIZZI, A
BERTAGNOLIO, B
DANGELO, A
WIESMANN, U
[J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1977, 40 (02) : 170 - 178
[7] DIDONATO S, 1977, PEDIATR RES, V11, P1094
[8] FATAL ATAXIC ENCEPHALOPATHY AND CARNITINE ACETYLTRANSFERASE DEFICIENCY - FUNCTIONAL DEFECT OF PYRUVATE OXIDATION
DIDONATO, S
RIMOLDI, M
MOISE, A
BERTAGNOGLIO, B
UZIEL, G
[J]. NEUROLOGY, 1979, 29 (12) : 1578 - 1583
[9] HEPATIC KETOGENESIS AND MUSCLE CARNITINE DEFICIENCY
DIDONATO, S
CORNELIO, F
STORCHI, G
RIMOLDI, M
[J]. NEUROLOGY, 1979, 29 (06) : 780 - 785
[10] MUSCLE CARNITINE PALMITYLTRANSFERASE DEFICIENCY - CASE WITH ENZYME DEFICIENCY IN CULTURED FIBROBLASTS
DIDONATO, S
CORNELIO, F
PACINI, L
PELUCHETTI, D
RIMOLDI, M
SPREAFICO, S
[J]. ANNALS OF NEUROLOGY, 1978, 4 (05) : 465 - 467

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