肢根型点状软骨发育不良：另一种过氧化物酶体病。 - Suppr

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超能文献

Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

作者信息

Heymans H S, Oorthuys J W, Nelck G, Wanders R J, Schutgens R B

出版信息

N Engl J Med. 1985 Jul 18;313(3):187-8.

PMID:4010717

Abstract

摘要

相似文献

Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.肢根型点状软骨发育不良：另一种过氧化物酶体病。

N Engl J Med. 1985 Jul 18;313(3):187-8.

Plasmalogen biosynthesis in the diagnosis of peroxisomal disorders.过氧化物酶体疾病诊断中的缩醛磷脂生物合成

J Clin Chem Clin Biochem. 1989 May;27(5):315-7.

Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.伴有孤立性二羟丙酮酰基转移酶缺乏的肢根型点状软骨发育不良。

Arch Dis Child. 1993 Mar;68(3):415-7. doi: 10.1136/adc.68.3.415.

Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester.

J Inherit Metab Dis. 1990;13(3):380-2. doi: 10.1007/BF01799400.

Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.肢根型点状软骨发育不良。过氧化物酶体中3-氧代酰基辅酶A硫解酶缺乏及该酶加工受损。

J Clin Invest. 1990 Jul;86(1):126-30. doi: 10.1172/JCI114674.

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.

Peroxisomal enzyme deficiency in the Conradi-Hunerman form of chondrodysplasia punctata.点状软骨发育不良Conradi-Hunerman型中的过氧化物酶体酶缺乏症。

N Engl J Med. 1987 Jun 18;316(25):1608. doi: 10.1056/NEJM198706183162517.

More on Zellweger's syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata.更多关于泽尔韦格综合征、婴儿型雷夫叙姆病和点状软骨发育不良的内容。

N Engl J Med. 1986 Sep 18;315(12):766-7. doi: 10.1056/NEJM198609183151218.

Normal peroxisomal function and absent skeletal manifestations in Conradi-Hünermann syndrome.康拉迪-于纳曼综合征中正常的过氧化物酶体功能及无骨骼表现

Arch Dermatol. 1991 Apr;127(4):539-42.

Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata.过氧化物酶体3-酮酰基辅酶A硫解酶在点状软骨发育不良患者的成纤维细胞中部分加工。

J Inherit Metab Dis. 1993;16(5):868-71. doi: 10.1007/BF00714280.

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Peroxisomes in Different Skeletal Cell Types during Intramembranous and Endochondral Ossification and Their Regulation during Osteoblast Differentiation by Distinct Peroxisome Proliferator-Activated Receptors.膜内成骨和软骨内成骨过程中不同骨骼细胞类型中的过氧化物酶体及其在成骨细胞分化过程中由不同过氧化物酶体增殖物激活受体的调控

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A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.一种由于脂肪酰辅酶A还原酶1缺乏导致的伴有严重智力残疾、癫痫和白内障的过氧化物酶体疾病。

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Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.78例1型肢根型点状软骨发育不良患者PEX7基因的突变谱及突变等位基因的功能分析

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