与植烷酸蓄积和缩醛磷脂合成缺陷相关的骨发育异常：一种可进行血浆置换治疗的过氧化物酶体疾病。 - Suppr

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.

作者信息

Smeitink J A, Beemer F A, Espeel M, Donckerwolcke R A, Jakobs C, Wanders R J, Schutgens R B, Roels F, Duran M, Dorland L

机构信息

University Children's Hospital, Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.

出版信息

J Inherit Metab Dis. 1992;15(3):377-80. doi: 10.1007/BF02435981.

DOI:10.1007/BF02435981

PMID:1405474

Abstract

摘要

相似文献

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.与植烷酸蓄积和缩醛磷脂合成缺陷相关的骨发育异常：一种可进行血浆置换治疗的过氧化物酶体疾病。

J Inherit Metab Dis. 1992;15(3):377-80. doi: 10.1007/BF02435981.

Biochemical abnormalities in rhizomelic chondrodysplasia punctata.点状骨骺发育异常的生化异常

J Pediatr. 1988 May;112(5):726-33. doi: 10.1016/s0022-3476(88)80689-9.

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.

[Peroxisomal diseases--pediatric and neurologic differential diagnosis].[过氧化物酶体疾病——儿科及神经科鉴别诊断]

Duodecim. 1991;107(2):80-6.

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.

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.

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.

Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography.

J Lipid Res. 1992 Jan;33(1):41-7.

Rhizomelic chondrodysplasia punctata--a new clinical variant.

J Inherit Metab Dis. 1992;15(6):931-2. doi: 10.1007/BF01800236.

[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.

引用本文的文献

The neurology of rhizomelic chondrodysplasia punctata.棘状毛囊发育不良性多发性骨骺发育不良的神经病学。

Orphanet J Rare Dis. 2013 Oct 30;8:174. doi: 10.1186/1750-1172-8-174.

Identification of PEX7 as the second gene involved in Refsum disease.鉴定PEX7为参与雷夫叙姆病的第二个基因。

Am J Hum Genet. 2003 Feb;72(2):471-7. doi: 10.1086/346093. Epub 2003 Jan 9.

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

Am J Hum Genet. 2002 Mar;70(3):612-24. doi: 10.1086/338998. Epub 2002 Jan 7.

Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.由PEX1基因突变导致的过氧化物酶体生物发生障碍：表型与PEX1蛋白水平

Am J Hum Genet. 2001 Jul;69(1):35-48. doi: 10.1086/321265. Epub 2001 Jun 1.

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.

Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.I型点状软骨发育不良的分子基础：38例患者中Leu-292终止突变的高频率

J Inherit Metab Dis. 1998 Jun;21(3):306-8. doi: 10.1023/a:1005301112923.

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.

Practical guide for morphometry of human peroxisomes on electron micrographs.电子显微镜下人类过氧化物酶体形态测量实用指南

J Inherit Metab Dis. 1995;18 Suppl 1:172-80. doi: 10.1007/BF00711438.

Immunocytochemical localization of peroxisomal proteins in human liver and kidney.过氧化物酶体蛋白在人肝脏和肾脏中的免疫细胞化学定位

J Inherit Metab Dis. 1995;18 Suppl 1:135-54. doi: 10.1007/BF00711436.

Peroxisomal disorders: a review.过氧化物酶体疾病：综述

J Inherit Metab Dis. 1994;17(4):470-86. doi: 10.1007/BF00711362.

本文引用的文献

Peroxisomal disorders in neurology.神经病学中的过氧化物酶体疾病

J Neurol Sci. 1988 Dec;88(1-3):1-39. doi: 10.1016/0022-510x(88)90203-1.

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.

Biochemical abnormalities in rhizomelic chondrodysplasia punctata.点状骨骺发育异常的生化异常

J Pediatr. 1988 May;112(5):726-33. doi: 10.1016/s0022-3476(88)80689-9.

Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction.先天性风疹综合征与骨骺点状钙化及过氧化物酶体功能障碍相关。

J Pediatr. 1990 Jan;116(1):88-94. doi: 10.1016/s0022-3476(05)81651-8.

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.

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction.

J Inherit Metab Dis. 1991;14(3):361-3. doi: 10.1007/BF01811703.

Pristanic acid and phytanic acid in plasma from patients with a single peroxisomal enzyme deficiency.

J Inherit Metab Dis. 1991;14(3):345-8. doi: 10.1007/BF01811699.

Heredopathia atactica polyneuritiformis (refsum's disease) treated by diet and plasma-exchange.通过饮食和血浆置换治疗的遗传性共济失调性多神经炎（Refsum病）。

Lancet. 1979 Mar 17;1(8116):575-8. doi: 10.1016/s0140-6736(79)91005-5.

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Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.

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