FUMARASE DEFICIENCY IS AN AUTOSOMAL RECESSIVE ENCEPHALOPATHY AFFECTING BOTH THE MITOCHONDRIAL AND THE CYTOSOLIC ENZYMES

被引：72

作者：

GELLERA, C

UZIEL, G

RIMOLDI, M

ZEVIANI, M

LAVERDA, A

CARRARA, F

DIDONATO, S

机构：

[1] IST NEUROCHIRURG C BESTA,DIV BIOCHEM & GENET VIA CELORIA 11,I-20133 MILAN,ITALY

[2] UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY

来源：

关键词：

D O I：

10.1212/WNL.40.3_Part_1.495

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：495 / 499

页数：5

共 23 条

[11] LACTIC DEHYDROGENASE OF MUSCLE
KORNBERG, A
[J]. METHODS IN ENZYMOLOGY, 1955, 1 : 441 - 443
[12] PURIFICATION AND STRUCTURAL COMPARISONS OF THE CYTOSOLIC AND MITOCHONDRIAL ISOENZYMES OF FUMARASE FROM PIG-LIVER
OHARE, MC
DOONAN, S
[J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1985, 827 (02) : 127 - 134
[13] PETROVABENEDICT R, 1987, AM J HUM GENET, V40, P257
[14] DEMONSTRATION OF A SPECIFIC MITOCHONDRIAL ISOVALERYL-COA DEHYDROGENASE-DEFICIENCY IN FIBROBLASTS FROM PATIENTS WITH ISOVALERIC ACIDEMIA
RHEAD, WJ
TANAKA, K
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1980, 77 (01): : 580 - 583
[15] Srere P, 1969, METHOD ENZYMOL, V13, P3, DOI DOI 10.1016/0076-6879(69)13005-0
[16] SUZUKI T, 1989, J BIOL CHEM, V264, P2581
[17] TARONI F, 1988, BIOCHIM BIOPHYS ACTA, V916, P446
[18] TOLLEY E, 1975, BIOCH GENET, V13, P866
[19] CARNITINE STIMULATION OF PYRUVATE-DEHYDROGENASE COMPLEX (PDHC) IN ISOLATED HUMAN SKELETAL-MUSCLE MITOCHONDRIA
UZIEL, G
GARAVAGLIA, B
DIDONATO, S
[J]. MUSCLE & NERVE, 1988, 11 (07) : 720 - 724
[20] SYNTENY OF HUMAN LOCI FOR FUMARATE HYDRATASE AND UDPG PYROPHOSPHORYLASE WITH CHROMOSOME-1 MARKERS IN SOMATIC-CELL HYBRIDS
VANSOMEREN, H
BEIJERSBERGENVANHENEGOUWEN, H
WESTERVELD, A
BOOTSMA, D
[J]. CYTOGENETICS AND CELL GENETICS, 1974, 13 (06): : 551 - 557