ライフサイエンスコーパス: Zellweger

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1 Zellweger spectrum disorder (ZSD) is a heterogeneous gro

2 Zellweger spectrum disorders (ZSDs) are autosomal-recess

3 Zellweger syndrome and related diseases are caused by de

4 Zellweger syndrome is a lethal inherited disorder charac

5 Zellweger syndrome is a lethal neurological disorder cha

6 Zellweger syndrome is a peroxisomal biogenesis disorder

7 Zellweger syndrome, neonatal adrenoleukodystrophy, infan

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

26 1 beta deficiency differs significantly from Zellweger syndrome and Zellweger syndrome mice in that i

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

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

29 Peroxisome assembly disorders including Zellweger syndrome and rhizomelic chondrodysplasia punct

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

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

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

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

34 localization and challenge current models of Zellweger syndrome pathogenesis.

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

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

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

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

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

40 biogenesis disorders, collectively named the Zellweger spectrum disorders (ZSDs), whereas mutations i

41 rted, each associated with a disorder of the Zellweger spectrum of different severity.

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

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