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Di- and trihydroxycholestanoic acidaemia with hepatic failure.

作者信息

Przyrembel H, Wanders R J, van Roermund C W, Schutgens R B, Mannaerts G P, Casteels M

机构信息

Department of Paediatrics, Eramus University Rotterdam/Sophia Children's Hospital, The Netherlands.

出版信息

J Inherit Metab Dis. 1990;13(3):367-70. doi: 10.1007/BF01799397.

DOI:10.1007/BF01799397
PMID:2122102
Abstract
摘要

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1
Di- and trihydroxycholestanoic acidaemia with hepatic failure.
J Inherit Metab Dis. 1990;13(3):367-70. doi: 10.1007/BF01799397.
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3
Heterogeneity in di/trihydroxycholestanoic acidaemia.
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5
Delta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid.δ4-3-氧代甾体5β-还原酶缺乏症：熊去氧胆酸治疗失败及对鹅去氧胆酸加胆酸的反应
Gut. 1996 Apr;38(4):623-8. doi: 10.1136/gut.38.4.623.
6
Identification of 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestan-26-oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease.在婴儿型Refsum病患者血浆中鉴定出3α,7α,12α-三羟基-5β-胆甾烷-26-酸，这是胆酸合成的一种中间体。
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Synchronization of hepatic cholesterol synthesis, cholesterol and bile acid content, fatty acid synthesis and plasma free fatty acid levels in the fed and fasted rat.喂食和禁食大鼠肝脏胆固醇合成、胆固醇和胆汁酸含量、脂肪酸合成及血浆游离脂肪酸水平的同步性
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[Bile acids in the serum of patients with extrahepatic cholestasis with chronic liver diseases].[慢性肝病合并肝外胆汁淤积患者血清中的胆汁酸]
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Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy.多种过氧化物酶体酶缺乏症。齐韦格脑肝肾综合征与新生儿肾上腺脑白质营养不良的比较生化与形态学研究。
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引用本文的文献

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Biochemistry of peroxisomes in health and disease.健康与疾病状态下过氧化物酶体的生物化学
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Molecular characterization of the human peroxisomal branched-chain acyl-CoA oxidase: cDNA cloning, chromosomal assignment, tissue distribution, and evidence for the absence of the protein in Zellweger syndrome.人过氧化物酶体支链酰基辅酶A氧化酶的分子特征：cDNA克隆、染色体定位、组织分布以及在泽尔韦格综合征中该蛋白缺失的证据
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3
Peroxisomal disorders: a review.

本文引用的文献

1
X-linked adrenoleukodystrophy: defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA esters.X连锁肾上腺脑白质营养不良：过氧化物酶体对极长链脂肪酸的氧化存在缺陷，但对极长链脂肪酰辅酶A酯的氧化无缺陷。
Clin Chim Acta. 1987 Jun 15;165(2-3):321-9. doi: 10.1016/0009-8981(87)90177-x.
2
Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids.与3β,7α-二羟基-5-胆烯酸及3β,7α,12α-三羟基-5-胆烯酸合成相关的家族性巨细胞性肝炎
J Clin Invest. 1987 Apr;79(4):1031-8. doi: 10.1172/JCI112915.
3
Inhibition of 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestanoic acid oxidation and of bile acid secretion in rat liver by fatty acids.
过氧化物酶体疾病：综述
J Inherit Metab Dis. 1994;17(4):470-86. doi: 10.1007/BF00711362.
4
Di- and trihydroxycholestanaemia in twin sisters.
J Inherit Metab Dis. 1991;14(3):357-60. doi: 10.1007/BF01811702.
5
Inborn errors of bile acid metabolism.先天性胆汁酸代谢异常
J Inherit Metab Dis. 1991;14(4):478-96. doi: 10.1007/BF01797919.
脂肪酸对大鼠肝脏中3α,7α,12α-三羟基-5β-胆甾烷酸氧化及胆汁酸分泌的抑制作用。
J Biol Chem. 1988 Apr 5;263(10):4654-61.
4
Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis.同卵双胞胎患新生儿肝炎时出现的δ4-3-氧代类固醇5β-还原酶缺乏症。胆汁酸合成中的一种新的先天性代谢缺陷。
J Clin Invest. 1988 Dec;82(6):2148-57. doi: 10.1172/JCI113837.
5
Peroxisomal beta-oxidation of palmitoyl-CoA in human liver homogenates and its deficiency in the cerebro-hepato-renal (Zellweger) syndrome.人肝匀浆中棕榈酰辅酶A的过氧化物酶体β-氧化及其在脑肝肾（泽尔韦格）综合征中的缺乏。
Clin Chim Acta. 1986 Aug 30;159(1):1-10. doi: 10.1016/0009-8981(86)90160-9.
6
Peroxisomal bifunctional enzyme deficiency.过氧化物酶体双功能酶缺乏症
J Clin Invest. 1989 Mar;83(3):771-7. doi: 10.1172/JCI113956.
7
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).一种新的过氧化物酶体疾病，伴有过氧化物酶体增大及酰基辅酶A氧化酶特异性缺乏（假性新生儿肾上腺脑白质营养不良）。
Am J Hum Genet. 1988 Mar;42(3):422-34.
8
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.
9
Subcellular distribution and characteristics of trihydroxycoprostanoyl-CoA synthetase in rat liver.大鼠肝脏中三羟基粪甾烷酰辅酶A合成酶的亚细胞分布及特性
Biochem J. 1989 Jan 1;257(1):221-9. doi: 10.1042/bj2570221.
10
The inborn errors of peroxisomal beta-oxidation: a review.过氧化物酶体β-氧化的先天性代谢缺陷：综述
J Inherit Metab Dis. 1990;13(1):4-36. doi: 10.1007/BF01799330.