当前位置： SCI文献检索 > JOURNAL OF INHERITED METABOLIC DISEASE期刊下所有文献 > Disturbed very long chain (C24-C26) fatty acid pattern in fibroblasts of patients with Zellweger's syndrome.

Disturbed very long chain (C24-C26) fatty acid pattern in fibroblasts of patients with Zellweger's syndrome.

Abstract：

:The very long chain fatty acids in cultured fibroblasts from six patients with the cerebro-hepato-renal syndrome of Zellweger, from six of their parents, from three controls, and also in three amniotic fluid control cell lines were analysed by gas chromatography. Increased concentrations of hexacosanoic acid (C26:O) were consistently found in the Zellweger syndrome. Also the ratios C26:O/C22:O, C25:O/C22:O, and C24:O/C22:O were elevated. The very long chain fatty acid levels and ratios in fibroblasts from the patients' parents were within the normal range. Findings in amniotic fluid cell lines indicate the possibility of antenatal diagnosis for Zellweger's syndrome. The similarities between neonatal adrenoleukodystrophy and Zellweger's syndrome suggest the applicability of this technique also in neonatal adrenoleukodystrophy.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Govaerts L,Bakkeren J,Monnens L,Maas J,Trijbels F,Kleijer W

doi

10.1007/BF01805473

subject

Has Abstract

pub_date

1985-01-01 00:00:00

pages

5-8

issue

1

eissn

0141-8955

issn

1573-2665

journal_volume

8

pub_type

杂志文章

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