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Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation.

作者信息

Clayton P T, Lake B D, Hjelm M, Stephenson J B, Besley G T, Wanders R J, Schram A W, Tager J M, Schutgens R B, Lawson A M

机构信息

Institute of Child Health, London, UK.

出版信息

J Inherit Metab Dis. 1988;11 Suppl 2:165-8. doi: 10.1007/BF01804226.

DOI:10.1007/BF01804226
PMID:3141700
Abstract
摘要

相似文献

1
Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation.“假性齐-韦二氏”综合征中的胆汁酸分析；过氧化物酶体β氧化缺陷的线索
J Inherit Metab Dis. 1988;11 Suppl 2:165-8. doi: 10.1007/BF01804226.
2
Zellweger-like phenotype in two siblings: a defect in peroxisomal beta-oxidation with elevated very long-chain fatty acids but normal bile acids.两例同胞出现类似泽尔韦格综合征的表型：过氧化物酶体β氧化缺陷伴极长链脂肪酸升高但胆汁酸正常。
J Inherit Metab Dis. 1992;15(3):381-4. doi: 10.1007/BF02435982.
3
Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidation.一名患有过氧化物酶体β氧化缺陷的男婴出现新生儿惊厥和严重肌张力减退。
Neuromuscul Disord. 1992;2(3):217-24. doi: 10.1016/0960-8966(92)90009-u.
4
[Peroxisome disorders].
Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):817-20.
5
Peroxisomal diseases.过氧化物酶体病
Prog Clin Biol Res. 1988;282:117-37.
6
A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids.双胎新生儿中的一种新的过氧化物酶体β氧化障碍：神经酸和降植烷酸氧化缺陷
J Inherit Metab Dis. 1997 Sep;20(5):658-64. doi: 10.1023/a:1005318308422.
7
[Peroxisomes and peroxisomal diseases].[过氧化物酶体与过氧化物酶体疾病]
Postepy Hig Med Dosw. 1991;45(1-2):77-99.
8
Complementation in Zellweger syndrome: biochemical analysis of newly generated peroxisomes.
Hum Hered. 1992;42(3):172-8. doi: 10.1159/000154062.
9
Severe changes in polyunsaturated fatty acids in the brain, liver, kidney, and retina in patients with peroxisomal disorders.过氧化物酶体疾病患者大脑、肝脏、肾脏和视网膜中多不饱和脂肪酸的严重变化。
Adv Exp Med Biol. 1992;318:347-59. doi: 10.1007/978-1-4615-3426-6_32.
10
Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders.人皮肤成纤维细胞中过氧化物酶体极长链脂肪酸β-氧化：在泽尔韦格综合征和其他过氧化物酶体疾病中的活性
Clin Chim Acta. 1987 Jul 15;166(2-3):255-63. doi: 10.1016/0009-8981(87)90428-1.

引用本文的文献

1
Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.通过产物替代治疗先天性代谢缺陷：以胆汁酸合成先天性代谢缺陷为例
J Inherit Metab Dis. 2025 Sep;48(5):e70081. doi: 10.1002/jimd.70081.
2
Infant cholestasis patient with a novel missense mutation in the gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature.婴儿胆汁淤积症患者在基因中存在新的错义突变，通过早期充分补充鹅去氧胆酸成功治疗：病例报告及文献复习。
World J Gastroenterol. 2018 Sep 21;24(35):4086-4092. doi: 10.3748/wjg.v24.i35.4086.
3
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.

本文引用的文献

1
Bile acids. LXVII. The major bile acids of Varanus monitor.
J Lipid Res. 1982 Sep;23(7):947-54.
2
Synthesis of four diastereoisomers at carbons 24 and 25 of 3 alpha,7 alpha,12 alpha,24-tetrahydroxy-5 beta-cholestan-26-oic acid, intermediates of bile acid biosynthesis.
J Lipid Res. 1983 Jul;24(7):924-9.
3
Peroxisomal disorders: a newly recognised group of genetic diseases.过氧化物酶体病：一组新发现的遗传性疾病。
Eur J Pediatr. 1986 Feb;144(5):430-40. doi: 10.1007/BF00441734.
4
过氧化物酶体 D-双功能蛋白缺乏症：三例成人经全外显子组测序诊断。
Neurology. 2014 Mar 18;82(11):963-8. doi: 10.1212/WNL.0000000000000219. Epub 2014 Feb 19.
4
Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA.人过氧化物酶体烯酰辅酶A水合酶：3-羟酰基辅酶A脱氢酶cDNA的氨基酸和核苷酸序列
J Inherit Metab Dis. 1998 Feb;21(1):23-8. doi: 10.1023/a:1005355112975.
5
Abnormality in catalase import into peroxisomes leads to severe neurological disorder.过氧化氢酶导入过氧化物酶体异常会导致严重的神经紊乱。
Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):2961-6. doi: 10.1073/pnas.95.6.2961.
6
D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.D-3-羟酰基辅酶A脱水酶/D-3-羟酰基辅酶A脱氢酶双功能蛋白缺乏症：一种新发现的过氧化物酶体疾病。
Am J Hum Genet. 1997 Nov;61(5):1153-62. doi: 10.1086/301599.
7
Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.测定绒毛膜绒毛样本、血细胞和培养细胞中的磷酸二羟丙酮酰基转移酶（DHAPAT）。
J Inherit Metab Dis. 1995;18 Suppl 1:90-100. doi: 10.1007/BF00711432.
8
Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts.培养的人皮肤成纤维细胞中过氧化物酶体脂肪酸β-氧化的测定
J Inherit Metab Dis. 1995;18 Suppl 1:113-24. doi: 10.1007/BF00711434.
9
Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects.成纤维细胞中降植烷酸的氧化及其在过氧化物酶体β-氧化缺陷诊断中的应用。
J Clin Invest. 1996 Feb 1;97(3):681-8. doi: 10.1172/JCI118465.
10
Isolated defect of peroxisomal beta-oxidation in a 16-year-old patient.一名16岁患者的过氧化物酶体β氧化单独缺陷
Eur J Pediatr. 1993 Apr;152(4):339-42. doi: 10.1007/BF01956749.
Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.人类过氧化物酶体3-氧代酰基辅酶A硫解酶缺乏症。
Proc Natl Acad Sci U S A. 1987 Apr;84(8):2494-6. doi: 10.1073/pnas.84.8.2494.
5
Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities.假性 Zellweger 综合征：多种过氧化物酶体氧化活性缺乏。
J Pediatr. 1986 Jan;108(1):25-32. doi: 10.1016/s0022-3476(86)80764-8.
6
Plasma bile acids in patients with peroxisomal dysfunction syndromes: analysis by capillary gas chromatography-mass spectrometry.过氧化物酶体功能障碍综合征患者的血浆胆汁酸：毛细管气相色谱-质谱分析
Eur J Pediatr. 1987 Mar;146(2):166-73. doi: 10.1007/BF02343226.
7
Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts.通过尿胆汁盐的快原子轰击-质谱法快速诊断泽尔韦格综合征和婴儿型雷夫叙姆病。
Clin Chim Acta. 1986 Dec 15;161(2):221-31. doi: 10.1016/0009-8981(86)90215-9.