高哌可酸血症中的过氧化物酶体及过氧化物酶体功能 - Suppr

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超能文献

Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia.

作者信息

Wanders R J, van Roermund C W, van Wijland M J, Schutgens R B, Tager J M, van den Bosch H, Thomas G H

机构信息

Department of Pediatrics, University Hospital Amsterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 1988;11 Suppl 2:161-4. doi: 10.1007/BF01804225.

DOI:10.1007/BF01804225

PMID:3141699

Abstract

摘要

相似文献

Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia.高哌可酸血症中的过氧化物酶体及过氧化物酶体功能

J Inherit Metab Dis. 1988;11 Suppl 2:161-4. doi: 10.1007/BF01804225.

Phenotypic heterogeneity in cultured skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group.来自同一互补组的过氧化物酶体生物发生障碍患者的培养皮肤成纤维细胞中的表型异质性。

Biochim Biophys Acta. 1991 Oct 21;1097(3):232-7. doi: 10.1016/0925-4439(91)90041-7.

Peroxisomal functions in classical Refsum's disease: comparison with the infantile form of Refsum's disease.经典型雷夫叙姆病中的过氧化物酶体功能：与婴儿型雷夫叙姆病的比较。

J Neurol Sci. 1988 Apr;84(2-3):147-55. doi: 10.1016/0022-510x(88)90120-7.

Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids.假性婴儿型雷夫叙姆病：过氧化氢酶缺乏的过氧化物酶体颗粒，伴有缩醛磷脂合成和脂肪酸氧化部分缺陷。

Pediatr Res. 1993 Sep;34(3):270-6. doi: 10.1203/00006450-199309000-00006.

Complementation in Zellweger syndrome: biochemical analysis of newly generated peroxisomes.

Hum Hered. 1992;42(3):172-8. doi: 10.1159/000154062.

Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment.脑肝肾综合征：诊断、预防及治疗中的生化程序

J Inherit Metab Dis. 1987;10 Suppl 1:33-45. doi: 10.1007/BF01812845.

Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine.

J Inherit Metab Dis. 1991;14(6):876-80. doi: 10.1007/BF01800466.

[Peroxisomal disorders; newer concept and recent studies].

Nihon Rinsho. 1990 Mar;48(3):629-38.

Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients.过氧化物酶体生物发生障碍中的遗传和表型异质性——一项涉及19名患者细胞系的互补研究。

Pediatr Res. 1989 Jul;26(1):67-72. doi: 10.1203/00006450-198907000-00019.

A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts.一种在培养的成纤维细胞中过氧化物酶体功能正常的新的泽尔韦格综合征变体。

J Inherit Metab Dis. 1994;17(3):319-22. doi: 10.1007/BF00711818.

引用本文的文献

Peroxisomal disorders: clinical, biochemical, and molecular aspects.过氧化物酶体疾病：临床、生化及分子层面

Neurochem Res. 1999 Apr;24(4):565-80. doi: 10.1023/a:1022592014988.

Diagnostic work-up of a peroxisomal patient.过氧化物酶体病患者的诊断检查

J Inherit Metab Dis. 1995;18 Suppl 1:214-22. doi: 10.1007/BF00711440.

Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine.

J Inherit Metab Dis. 1991;14(6):876-80. doi: 10.1007/BF01800466.

Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review.先天性过氧化物酶体疾病的肝脏病理学与免疫细胞化学：综述

J Inherit Metab Dis. 1991;14(6):853-75. doi: 10.1007/BF01800464.

本文引用的文献

Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings.高哌可酸血症：两名男性同胞的临床与生化观察

J Pediatr. 1981 Nov;99(5):729-34. doi: 10.1016/s0022-3476(81)80393-9.

Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case study.高哌可酸血症：一种与神经病变和肝肿大相关的新型代谢紊乱：病例研究

Can Med Assoc J. 1968 Dec 28;99(25):1215-33.

Neonatal adrenoleukodystrophy. Impaired plasmalogen biosynthesis and peroxisomal beta-oxidation due to a deficiency of catalase-containing particles (peroxisomes) in cultured skin fibroblasts.新生儿肾上腺脑白质营养不良。由于培养的皮肤成纤维细胞中含过氧化氢酶颗粒（过氧化物酶体）缺乏，导致缩醛磷脂生物合成和过氧化物酶体β氧化受损。

J Neurol Sci. 1987 Feb;77(2-3):331-40. doi: 10.1016/0022-510x(87)90132-8.

Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26:0) beta-oxidation in cultured chorionic villous fibroblasts: implications for early diagnosis of other peroxisomal disorders.通过检测培养的绒毛膜绒毛成纤维细胞中极长链脂肪酸（C26:0）的β氧化作用对泽尔韦格综合征进行产前诊断：对其他过氧化物酶体疾病早期诊断的意义

Clin Chim Acta. 1987 Jun 15;165(2-3):303-10. doi: 10.1016/0009-8981(87)90175-6.

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.

New approaches in peroxisomal disorders.过氧化物酶体疾病的新疗法。

Dev Neurosci. 1987;9(1):1-18. doi: 10.1159/000111604.

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.脑肝肾（泽尔韦格）综合征及其他伴有过氧化物酶体功能普遍受损的遗传性疾病中的遗传异质性。一项采用互补分析的研究。

J Clin Invest. 1988 Jun;81(6):1710-5. doi: 10.1172/JCI113510.

Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata.脑肝肾综合征、婴儿型Refsum病和点状软骨发育不良的遗传关系。

N Engl J Med. 1986 Mar 20;314(12):787-8. doi: 10.1056/NEJM198603203141216.

Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease.

Clin Genet. 1975 Nov;8(5):376-82. doi: 10.1111/j.1399-0004.1975.tb01517.x.

Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism.泽尔韦格脑肝肾综合征。八例报告并对发病率、肝脏病变及哌可酸代谢缺陷加以评论。

J Pediatr. 1975 Mar;86(3):382-7. doi: 10.1016/s0022-3476(75)80967-x.

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