ライフサイエンスコーパス: Zellweger syndrome

コーパス検索結果 (１語後でソート)

通し番号をクリックするとPubMedの該当ページを表示します

1 isome-biogenesis disorders (PBDs), including Zellweger syndrome.

2 ain fatty acids in X-ALD and is abolished in Zellweger syndrome.

3 are the cause of lethal diseases typified by Zellweger syndrome.

4 isome-deficient PEX2(-/-) mouse, a model for Zellweger syndrome.

5 Mutations in human PEX12 result in Zellweger syndrome, a lethal neurological disorder, and

6 t inactivating mutations in human PEX3 cause Zellweger syndrome, abrogate peroxisome membrane synthes

7 atients have a phenotype milder than classic Zellweger syndrome and exhibit a progressive disease cou

8 rum established a pattern similar to that of Zellweger syndrome and identical to the Alligator missis

9 Zellweger syndrome and related diseases are caused by de

10 Peroxisome assembly disorders including Zellweger syndrome and rhizomelic chondrodysplasia punct

11 odystrophy, metachromatic leukodystrophy and Zellweger syndrome and will aid in the understanding of

12 1 beta deficiency differs significantly from Zellweger syndrome and Zellweger syndrome mice in that i

13 ents suffering from the peroxisomal disorder Zellweger syndrome, and with car1, a protein required fo

14 Peroxisomal genetic disorders, such as Zellweger syndrome, are characterized by defects in one

15 that the neurological pathologic features of Zellweger syndrome can occur without peroxisomal enzyme

16 In all previously reported Zellweger syndrome cell lines the defect could be assign

17 types are also manifested in mouse models of Zellweger syndrome generated by disruption of the PEX5 o

18 or the human peroxisomal biogenesis disorder Zellweger syndrome illustrates the complex interplay of

19 gic features shared by these mouse models of Zellweger syndrome, including neuronal migration defects

20 Zellweger syndrome is a lethal inherited disorder charac

21 Zellweger syndrome is a lethal neurological disorder cha

22 Zellweger syndrome is a peroxisomal biogenesis disorder

23 This association of Zellweger syndrome-like brain dysgenesis with a defect o

24 rs significantly from Zellweger syndrome and Zellweger syndrome mice in that it is not characterized

25 mon cause of the lethal neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and i

26 Zellweger syndrome, neonatal adrenoleukodystrophy, infan

27 ere increased in all patients homozygous for Zellweger syndrome, neonatal adrenoleukodystrophy, infan

28 localization and challenge current models of Zellweger syndrome pathogenesis.

29 However, we report here a Zellweger syndrome patient (PBD061) with an unusual cell

30 fibroblasts but not in cells derived from a Zellweger syndrome patient with a specific defect in per

31 A Zellweger syndrome patient, PBD100, was homozygous for a

32 sed primary human fibroblasts from X-ALD and Zellweger syndrome patients to investigate the peroxisom

33 al substrates are thought to cause the other Zellweger syndrome phenotypes, including neuronal migrat

34 le assembly in the PEX2(-/-) mouse model for Zellweger syndrome provides a unique opportunity to deve

35 use peroxisomal biogenesis disorders such as Zellweger syndrome result from these defects, and the re

36 plex constitute the most common cause of the Zellweger syndrome spectrum of diseases.

37 brain dysgenesis that resemble those in the Zellweger syndrome were demonstrated in a boy with an is

38 clinical features from the most severe form, Zellweger syndrome (ZS), through neonatal adrenoleukodys

WebLSDに未収録の専門用語（用法）は "新規対訳" から投稿できます。