ライフサイエンスコーパス: adrenoleukodystrophy

1 tem for understanding the molecular basis of adrenoleukodystrophy.

2 isease, as devastating as childhood cerebral adrenoleukodystrophy.

3 plantation in boys with early-stage cerebral adrenoleukodystrophy.

4 evere neurological manifestation is cerebral adrenoleukodystrophy.

5 nd potential alternative approaches to treat adrenoleukodystrophy.

6 ute to the biochemical pathology of X-linked adrenoleukodystrophy.

7 inflammatory cerebral phenotypes of X-linked adrenoleukodystrophy.

8 involved in cerebral phenotypes of X-linked adrenoleukodystrophy.

9 may be facilitated by newborn screening for adrenoleukodystrophy.

10 this enzyme in the pathogenesis of X-linked adrenoleukodystrophy.

11 stem cell transplantation in adult cerebral adrenoleukodystrophy.

12 he childhood-onset cerebral form of X-linked adrenoleukodystrophy, a demyelinating disorder of the ce

13 X-linked adrenoleukodystrophy (ALD) is a devastating inherited ne

14 .7 kb segment encompassing exons 7-10 of the adrenoleukodystrophy (ALD) locus of the X chromosome has

15 X-linked adrenoleukodystrophy (ALD) may switch phenotype to the f

16 ansporter that is 42% identical to the human adrenoleukodystrophy (ALD) protein, which is defective i

17 X-linked adrenoleukodystrophy (ALD) usually presents in childhood

18 iseases such as Alzheimer's, Parkinson's and adrenoleukodystrophy (ALD).

19 sorders and phenylbutyrate and lovastatin in adrenoleukodystrophy (ALD).

20 acids (VLCFAs), as seen in the human disease adrenoleukodystrophy (ALD).

21 disorders of fatty acid metabolism, such as adrenoleukodystrophy and adrenomyeloneuropathy.

22 nstrated by contrast enhancement in cerebral adrenoleukodystrophy and is an early sign of lesion prog

23 ents with neuroinflammatory diseases (e.g. X-adrenoleukodystrophy and multiple sclerosis) suggest tha

24 An update is also given for adrenoleukodystrophy and myelin-protein-related disorder

25 the multiple gene mutations responsible for adrenoleukodystrophy and possible mechanisms for the gen

26 Twenty patients with different phenotypes of adrenoleukodystrophy and seven age-matched controls were

27 HU in two distinct disease models, X-linked adrenoleukodystrophy and sickle cell disease.

28 dysplasia punctata, Refsum disease, X-linked adrenoleukodystrophy, and deficiency of mitochondrial me

29 logic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease and a

30 europathy is the late-onset form of X-linked adrenoleukodystrophy, and is considered the most frequen

31 ties may be important in the pathogenesis of adrenoleukodystrophy, and that a mutant myelin protein c

32 enesis, diagnosis and prevention of X-linked adrenoleukodystrophy, and therapies are emerging.

33 umulate in tissues of patients with X-linked adrenoleukodystrophy, are activated by very long-chain a

34 ctroscopy have been well studied in X-linked adrenoleukodystrophy, but no data exist on magnetic reso

35 Untreated childhood cerebral adrenoleukodystrophy (cALD) is a fatal disease associate

36 Cerebral adrenoleukodystrophy (cALD) remains a devastating neurod

37 eported for patients with childhood cerebral adrenoleukodystrophy (CCALD) who had received haematopoi

38 ssive inflammatory demyelination in cerebral adrenoleukodystrophy coincides with blood-brain barrier

39 e partially restored in transfected X-linked adrenoleukodystrophy fibroblasts regardless of the chime

40 All eight patients with cerebral adrenoleukodystrophy had an average 80% decrease in norm

41 The gene defect in X-linked adrenoleukodystrophy has been firmly established and the

42 X-linked adrenoleukodystrophy has two distinct neurological pheno

43 ts with childhood onset of cerebral X-linked adrenoleukodystrophy have been followed for 5-10 years a

44 We enrolled boys with cerebral adrenoleukodystrophy in a single-group, open-label, phas

45 s in corresponding amino acids in ALDP cause adrenoleukodystrophy in humans.

46 Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease and rhizo

47 homozygous for Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease, and in

48 Cerebral X-linked adrenoleukodystrophy is a devastating neurodegenerative

49 adult cerebral inflammatory form of X-linked adrenoleukodystrophy is a rapidly progressive neurodegen

50 Because adrenoleukodystrophy is an X-linked disease, the affecte

51 ientific commentary on this article.X-linked adrenoleukodystrophy is caused by mutations in the ABCD1

52 Cerebral adrenoleukodystrophy is characterized by demyelination a

53 The biochemical hallmark of X-linked adrenoleukodystrophy is the accumulation of very long ch

54 In six of seven patients with cerebral adrenoleukodystrophy lesions and follow-up imaging (2-24

55 imal models have been developed for X-linked adrenoleukodystrophy, metachromatic leukodystrophy and Z

56 Heterozygous women and the X-linked adrenoleukodystrophy mouse model often have the adrenomy

57 In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of

58 sease progression in advanced adult cerebral adrenoleukodystrophy (n = 1), or secondary disease progr

59 m, Zellweger syndrome (ZS), through neonatal adrenoleukodystrophy (NALD) to the least severe form, in

60 linical variants within the PBDs is neonatal adrenoleukodystrophy (NALD), a disease that is usually a

61 ut a likely role for this enzyme in X-linked adrenoleukodystrophy pathology.

62 ion of this protein in cells from a neonatal adrenoleukodystrophy patient specifically defective in P

63 A more mildly affected neonatal adrenoleukodystrophy patient was a compound heterozygote

64 ed GFP in human skin fibroblasts of X-linked adrenoleukodystrophy patients.

65 sembles that observed in cells from X-linked adrenoleukodystrophy patients.

66 The adrenoleukodystrophy protein (ALDP) and the 70-kDa perox

67 The adrenoleukodystrophy protein (ALDP) and the 70-kDa perox

68 somal ATP-binding cassette half-transporter, adrenoleukodystrophy protein (ALDP), are the primary cau

69 h significant identity to the human X-linked adrenoleukodystrophy protein (ALDP).

70 d sequence identity with two human proteins, adrenoleukodystrophy protein and peroxisomal membrane pr

71 TP-binding cassette (ABC) transporter ABCD1 (adrenoleukodystrophy protein, ALDP).

72 somal-membrane proteins, including the human adrenoleukodystrophy protein, required for the efficient

73 omal disorders, is caused by the lack of the adrenoleukodystrophy protein, with an accumulation of ve

74 ing, encodes a peroxisomal membrane protein (adrenoleukodystrophy protein; ALDP) that belongs to the

75 eatment, an increase in transcription of the adrenoleukodystrophy-related gene and the peroxin gene,

76 X-linked adrenoleukodystrophy, representing the other group of pe

77 ients with childhood-onset cerebral X-linked adrenoleukodystrophy shows the long-term beneficial effe

78 evaluate the new information about X-linked adrenoleukodystrophy that has been reported in 2002 and

79 ons in the gene encoding ALDP cause X-linked adrenoleukodystrophy; the role of ALDR and PMP70 in huma

80 data from 14 adult males with adult cerebral adrenoleukodystrophy treated with allogeneic haematopoie

81 Median age at diagnosis of adult cerebral adrenoleukodystrophy was 33 years (range 21-48 years).

82 mmatory myeloneuropathic variant of X-linked adrenoleukodystrophy, where the disease process appears

83 st frequent peroxisomal disorder is X-linked adrenoleukodystrophy, which is caused by mutations in AB

84 n ABCD1 cause the neurodegenerative disease, adrenoleukodystrophy, which manifests as the spinal cord

85 used procedure for the diagnosis of X-linked adrenoleukodystrophy (X-ALD) and other peroxisomal disor

86 to study the phenotype evolution of X-linked adrenoleukodystrophy (X-ALD) and the relation between ax

87 sor imaging (DTI), in children with X-linked adrenoleukodystrophy (X-ALD) before and after haematopoi

88 assay, we determined the number of X-linked adrenoleukodystrophy (X-ALD) hemizygotes from the United

89 Cerebral X-linked adrenoleukodystrophy (X-ALD) is a disorder of very-long-

90 X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative and

91 X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative diso

92 X-Linked adrenoleukodystrophy (X-ALD) is a neurodegenerative diso

93 X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder w

94 X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder w

95 X-linked adrenoleukodystrophy (X-ALD) is associated with elevated

96 X-linked adrenoleukodystrophy (X-ALD) is characterized biochemica

97 The neurodegenerative disease X-linked adrenoleukodystrophy (X-ALD) is characterized by the abn

98 Mutations in the X-linked adrenoleukodystrophy (X-ALD) protein cause accumulation

99 X-linked adrenoleukodystrophy (X-ALD) results from mutations in A

100 X-linked adrenoleukodystrophy (X-ALD), an inherited peroxisomal d

101 ystropy protein (ALDP) defective in X-linked adrenoleukodystrophy (X-ALD).

102 l death leading to demyelination in X-linked adrenoleukodystrophy (X-ALD).