雷夫叙姆病、肾上腺脑白质营养不良症和泽尔韦格综合征。 - Suppr

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超能文献

Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome.

作者信息

Stokke O, Skrede S, Ek J, Björkhem I

出版信息

Scand J Clin Lab Invest. 1984 Sep;44(5):463-4. doi: 10.3109/00365518409083839.

DOI:10.3109/00365518409083839

PMID:6207587

Abstract

摘要

相似文献

Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome.雷夫叙姆病、肾上腺脑白质营养不良症和泽尔韦格综合征。

Scand J Clin Lab Invest. 1984 Sep;44(5):463-4. doi: 10.3109/00365518409083839.

Complementation analysis of peroxisomal disorders and classical Refsum.过氧化物酶体疾病与经典型雷夫叙姆病的互补分析

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Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.婴儿型雷夫叙姆病：一种遗传性过氧化物酶体病。与泽尔韦格综合征和新生儿肾上腺脑白质营养不良的比较。

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Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase.脑肝肾（泽尔韦格）综合征、肾上腺脑白质营养不良和雷夫叙姆病：血浆变化与皮肤成纤维细胞植烷酸氧化酶

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In situ genetic complementation analysis of cells with generalized peroxisomal dysfunction.对具有全身性过氧化物酶体功能障碍的细胞进行原位基因互补分析。

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Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsum's disease and X-linked adrenoleukodystrophy.泽尔韦格综合征、婴儿型雷夫叙姆病和X连锁肾上腺脑白质营养不良患者肝脏中的过氧化物酶体整合膜蛋白。

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Diffuse cerebral sclerosis erroneously reported as Refsum's syndrome.被误诊为Refsum综合征的弥漫性脑硬化症。

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Plasma polyenoic very-long-chain fatty acids in peroxisomal disease: biochemical discrimination of Zellweger's syndrome from other phenotypes.过氧化物酶体病中的血浆多烯超长链脂肪酸：泽韦格综合征与其他表型的生化鉴别

Neurology. 1989 Jan;39(1):44-7. doi: 10.1212/wnl.39.1.44.

[Peroxisomal neurologic diseases and Refsum disease: very long chain fatty acids and phytanic acid as diagnostic markers].[过氧化物酶体神经疾病与雷夫叙姆病：极长链脂肪酸和植烷酸作为诊断标志物]

Wien Klin Wochenschr. 1992;104(21):665-70.

Accumulation and defective beta-oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants.在齐-韦氏综合征、肾上腺脑白质营养不良和雷夫叙姆病变异型中极长链脂肪酸的蓄积及β-氧化缺陷。

Clin Genet. 1986 May;29(5):397-408. doi: 10.1111/j.1399-0004.1986.tb00511.x.

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Pelizaeus-Merzbacher disease. The Löwenberg-Hill type.

Acta Neuropathol. 1985;67(3-4):177-89. doi: 10.1007/BF00687799.

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.

A sibship with a mild variant of Zellweger syndrome.一个患有轻度型泽尔韦格综合征的家族。

J Inherit Metab Dis. 1987;10(3):253-9. doi: 10.1007/BF01800071.

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.

J Inherit Metab Dis. 1988;11(4):358-71. doi: 10.1007/BF01800425.

Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.植烷酸α-氧化及经典型雷夫叙姆病和过氧化物酶体疾病的互补分析

Hum Genet. 1989 Jan;81(2):175-81. doi: 10.1007/BF00293897.

Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction.原发性过氧化物酶体功能障碍患者血浆中降植烷酸（2,6,10,14-四甲基十五烷酸）的蓄积。

Eur J Pediatr. 1988 Feb;147(2):143-7. doi: 10.1007/BF00442211.

Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years.婴儿植烷酸贮积病的治疗：两名接受两年治疗儿童的临床、生化及超微结构研究结果

Eur J Pediatr. 1988 Feb;147(2):133-42. doi: 10.1007/BF00442210.

Peroxisomal disorders: clinical characterization.

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