SECONDARY 3-HYDROXYDICARBOXYLIC ACIDURIA MIMICKING LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY

被引：30

作者：

BENNETT, MJ ^{[1
]}

WEINBERGER, MJ ^{[1
]}

SHERWOOD, WG ^{[1
]}

BURLINA, AB ^{[1
]}

机构：

[1] UNIV PADUA,DEPT PEDIAT,PADUA,ITALY

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1994年 / 17卷 / 03期

关键词：

D O I：

10.1007/BF00711808

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：283 / 286

页数：4

共 12 条

[1] SECONDARY INHIBITION OF MULTIPLE NAD-REQUIRING DEHYDROGENASES IN RESPIRATORY-CHAIN COMPLEX-I DEFICIENCY - POSSIBLE METABOLIC MARKERS FOR THE PRIMARY DEFECT
BENNETT, MJ
SHERWOOD, WG
GIBSON, KM
BURLINA, AB
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (03) : 560 - 562
[2] MARKED ELEVATION OF URINARY 3-HYDROXYDECANEDIOIC ACID IN A MALNOURISHED INFANT WITH GLYCOGEN-STORAGE-DISEASE, MIMICKING LONG-CHAIN L-3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY
BERGOFFEN, J
KAPLAN, P
HALE, DE
BENNETT, MJ
BERRY, GT
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (05) : 851 - 856
[3] HUMAN LIVER LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE IS A MULTIFUNCTIONAL MEMBRANE-BOUND BETA-OXIDATION ENZYME OF MITOCHONDRIA
CARPENTER, K
POLLITT, RJ
MIDDLETON, B
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1992, 183 (02) : 443 - 448
[4] MUSCLE CYTOCHROME-C-OXIDASE DEFICIENCY ACCOMPANIED BY A URINARY ORGANIC-ACID PATTERN MIMICKING MULTIPLE ACYL-COA DEHYDROGENASE-DEFICIENCY
CHRISTENSEN, E
BRANDT, NJ
SCHMALBRUCH, H
KAMIENIECKA, Z
HERTZ, B
RUITENBEEK, W
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (03) : 553 - 556
[5] HAGENFELDT L, 1992, 30TH P S SSIEM, P136
[6] HALE DE, 1990, PROG CLIN BIOL RES, V321, P503
[7] ETHYLMALONIC ACIDURIA ASSOCIATED WITH PROGRESSIVE NEUROLOGICAL DISEASE AND PARTIAL CYTOCHROME-C-OXIDASE DEFICIENCY
LEHNERT, W
RUITENBEEK, W
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (03) : 557 - 559
[8] A COMPARISON OF [9,10-H-3]PALMITIC AND [9,10-H-3]MYRISTIC ACIDS FOR THE DETECTION OF DEFECTS OF FATTY-ACID OXIDATION IN INTACT CULTURED FIBROBLASTS
MANNING, NJ
OLPIN, SE
POLLITT, RJ
WEBLEY, J
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (01) : 58 - 68
[9] DIFFERENTIAL-DIAGNOSIS OF HYDROXYDICARBOXYLIC ACIDURIA BASED ON RELEASE OF (H2O)-H-3 FROM [9,10-H-3]MYRISTIC AND [9,10-H-3]PALMITIC ACIDS BY INTACT CULTURED FIBROBLASTS
OLPIN, SE
MANNING, NJ
CARPENTER, K
MIDDLETON, B
POLLITT, RJ
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1992, 15 (06) : 883 - 890
[10] POLLITT RJ, 1990, PROG CLIN BIOL RES, V321, P495

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