通过分析新生儿筛查时采集的储存血斑中的极长链脂肪酸来诊断泽韦格综合征。 - Suppr

Suppr

超能文献

Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening.

作者信息

Jakobs C, van den Heuvel C M, Stellaard F, Largillière C, Skovby F, Christensen E

机构信息

Department of Pediatrics, Free University Hospital, Amsterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 1993;16(1):63-6. doi: 10.1007/BF00711316.

DOI:10.1007/BF00711316

PMID:8487504

Abstract

摘要

相似文献

Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening.

J Inherit Metab Dis. 1993;16(1):63-6. doi: 10.1007/BF00711316.

Postmortem findings and prenatal diagnosis of Zellweger syndrome. Case report.

APMIS. 1993 Mar;101(3):226-8. doi: 10.1111/j.1699-0463.1993.tb00104.x.

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.

J Inherit Metab Dis. 2017 Nov;40(6):875-881. doi: 10.1007/s10545-017-0064-0. Epub 2017 Jul 4.

Plasma polyenoic very-long-chain fatty acids in peroxisomal disease: biochemical discrimination of Zellweger's syndrome from other phenotypes.

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

Analysis of very long-chain fatty acids and plasmalogen in the erythrocyte membrane: a simple method for the detection of peroxisomal disorders and discrimination between adrenoleukodystrophy and Zellweger syndrome.

Neuropediatrics. 1990 Aug;21(3):119-23. doi: 10.1055/s-2008-1071476.

[Peroxisomal neurologic diseases and Refsum disease: very long chain fatty acids and phytanic acid as diagnostic markers].

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

Diagnosis of peroxisomal disorders by analysis of phytanic and pristanic acids in stored blood spots collected at neonatal screening.

Clin Chem. 1993 Sep;39(9):1904-6.

Effect of glycerol trioleate oil milk formula administration on very long chain fatty acid levels and clinical course in a patient with Zellweger syndrome.

Eur J Pediatr. 1995 Oct;154(10):867. doi: 10.1007/BF01959804.

Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder.

Eur J Paediatr Neurol. 2016 Mar;20(2):331-335. doi: 10.1016/j.ejpn.2015.11.008. Epub 2015 Dec 1.

Child neurology: Zellweger syndrome.

Neurology. 2013 May 14;80(20):e207-10. doi: 10.1212/WNL.0b013e3182929f8e.

引用本文的文献

Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Genet Med. 2020 Apr;22(4):686-697. doi: 10.1038/s41436-019-0713-9. Epub 2019 Dec 11.

Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

Dev Disabil Res Rev. 2013;17(3):247-53. doi: 10.1002/ddrr.1117.

Storage policies and use of the Danish Newborn Screening Biobank.

J Inherit Metab Dis. 2007 Aug;30(4):530-6. doi: 10.1007/s10545-007-0631-x. Epub 2007 Jul 12.

A rapid screening procedure for the diagnosis of peroxisomal disorders: quantification of very long-chain fatty acids, as dimethylaminoethyl esters, in plasma and blood spots, by electrospray tandem mass spectrometry.

J Inherit Metab Dis. 2000 Jul;23(5):475-86. doi: 10.1023/a:1005612214179.

Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography--mass spectrometry.

J Inherit Metab Dis. 1995;18 Suppl 1:45-60. doi: 10.1007/BF00711428.

Clinical approach to inherited peroxisomal disorders.

J Inherit Metab Dis. 1995;18 Suppl 1:1-18. doi: 10.1007/BF00711425.

本文引用的文献

Diagnosis of adrenoleukodystrophy using dried blood spots.

Tohoku J Exp Med. 1985 May;146(1):69-72. doi: 10.1620/tjem.146.69.

A simple method to diagnose adrenoleukodystrophy using a dried blood spot on filter paper.

Clin Chim Acta. 1986 Aug 30;159(1):77-82. doi: 10.1016/0009-8981(86)90169-5.

Diagnosis of Zellweger syndrome by analysis of bile acids and plasmalogens in stored dried blood collected at neonatal screening.

J Pediatr. 1987 Aug;111(2):264-7. doi: 10.1016/s0022-3476(87)80084-7.

The inborn errors of peroxisomal beta-oxidation: a review.

J Inherit Metab Dis. 1990;13(1):4-36. doi: 10.1007/BF01799330.

Stable isotope dilution analysis of very long chain fatty acids in plasma, urine and amniotic fluid by electron capture negative ion mass fragmentography.

Clin Chim Acta. 1990 Nov 30;192(2):133-44. doi: 10.1016/0009-8981(90)90077-6.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验