戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

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 tem for understanding the molecular basis of adrenoleukodystrophy.
2 evelop life-threatening progressive cerebral adrenoleukodystrophy.
3 NA, is being tested in persons with cerebral adrenoleukodystrophy.
4 inical studies for the treatment of cerebral adrenoleukodystrophy.
5 azone might slow the progression of cerebral adrenoleukodystrophy.
6 isease, as devastating as childhood cerebral adrenoleukodystrophy.
7 plantation in boys with early-stage cerebral adrenoleukodystrophy.
8 evere neurological manifestation is cerebral adrenoleukodystrophy.
9 nd potential alternative approaches to treat adrenoleukodystrophy.
10 ute to the biochemical pathology of X-linked adrenoleukodystrophy.
11 inflammatory cerebral phenotypes of X-linked adrenoleukodystrophy.
12  involved in cerebral phenotypes of X-linked adrenoleukodystrophy.
13  this enzyme in the pathogenesis of X-linked adrenoleukodystrophy.
14  may be facilitated by newborn screening for adrenoleukodystrophy.
15  stem cell transplantation in adult cerebral adrenoleukodystrophy.
16 he childhood-onset cerebral form of X-linked adrenoleukodystrophy, a demyelinating disorder of the ce
17                    The finding that cerebral adrenoleukodystrophy, a life-threatening event for patie
18                                     X-linked adrenoleukodystrophy (ALD) is a devastating inherited ne
19                                     X-linked adrenoleukodystrophy (ALD) is a progressive neurodegener
20                                              Adrenoleukodystrophy (ALD) is an X-linked peroxisomal di
21                                              Adrenoleukodystrophy (ALD) is caused by mutations within
22 .7 kb segment encompassing exons 7-10 of the adrenoleukodystrophy (ALD) locus of the X chromosome has
23                                     X-linked adrenoleukodystrophy (ALD) may switch phenotype to the f
24 ansporter that is 42% identical to the human adrenoleukodystrophy (ALD) protein, which is defective i
25                                     X-linked adrenoleukodystrophy (ALD) usually presents in childhood
26 all molecule inhibitors for the treatment of adrenoleukodystrophy (ALD), we conducted a high-throughp
27 ught to underlie the pathologies observed in adrenoleukodystrophy (ALD).
28 iseases such as Alzheimer's, Parkinson's and adrenoleukodystrophy (ALD).
29 sorders and phenylbutyrate and lovastatin in adrenoleukodystrophy (ALD).
30 acids (VLCFAs), as seen in the human disease adrenoleukodystrophy (ALD).
31  disorders of fatty acid metabolism, such as adrenoleukodystrophy and adrenomyeloneuropathy.
32 el therapy in boys with early-stage cerebral adrenoleukodystrophy and evidence of active inflammation
33 nstrated by contrast enhancement in cerebral adrenoleukodystrophy and is an early sign of lesion prog
34 e therapy, most patients with early cerebral adrenoleukodystrophy and MRI abnormalities had no major
35 ents with neuroinflammatory diseases (e.g. X-adrenoleukodystrophy and multiple sclerosis) suggest tha
36                  An update is also given for adrenoleukodystrophy and myelin-protein-related disorder
37  the multiple gene mutations responsible for adrenoleukodystrophy and possible mechanisms for the gen
38 Twenty patients with different phenotypes of adrenoleukodystrophy and seven age-matched controls were
39  HU in two distinct disease models, X-linked adrenoleukodystrophy and sickle cell disease.
40 S without recurrence of symptoms of cerebral adrenoleukodystrophy, and 1 patient died from presumed g
41 dysplasia punctata, Refsum disease, X-linked adrenoleukodystrophy, and deficiency of mitochondrial me
42 logic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease and a
43 europathy is the late-onset form of X-linked adrenoleukodystrophy, and is considered the most frequen
44 ort-chain acyl-CoA dehydrogenase deficiency, adrenoleukodystrophy, and Pompe disease.
45 ties may be important in the pathogenesis of adrenoleukodystrophy, and that a mutant myelin protein c
46 enesis, diagnosis and prevention of X-linked adrenoleukodystrophy, and therapies are emerging.
47  lateral sclerosis (ALS) and active cerebral adrenoleukodystrophy are encouraging further development
48 umulate in tissues of patients with X-linked adrenoleukodystrophy, are activated by very long-chain a
49 ctroscopy have been well studied in X-linked adrenoleukodystrophy, but no data exist on magnetic reso
50                                     Cerebral adrenoleukodystrophy (C-ALD) is a rapidly progressing in
51                 Untreated childhood cerebral adrenoleukodystrophy (cALD) is a fatal disease associate
52                                     Cerebral adrenoleukodystrophy (cALD) is an inflammatory neurodege
53                                     Cerebral adrenoleukodystrophy (CALD) is an X-linked rapidly progr
54                          The severe cerebral adrenoleukodystrophy (cALD) phenotype has a poor prognos
55                                     Cerebral adrenoleukodystrophy (cALD) remains a devastating neurod
56 rrier disruption marks the onset of cerebral adrenoleukodystrophy (CALD), a devastating cerebral demy
57 eported for patients with childhood cerebral adrenoleukodystrophy (CCALD) who had received haematopoi
58  deletion was diagnosed with active cerebral adrenoleukodystrophy characterized by demyelination and
59 oleukodystrophy is a severe form of X-linked adrenoleukodystrophy characterized by white-matter disea
60 ssive inflammatory demyelination in cerebral adrenoleukodystrophy coincides with blood-brain barrier
61 nd neurodegenerative processes implicated in adrenoleukodystrophy disease progression.
62                        A 9-year-old boy with adrenoleukodystrophy due to ABCD1 whole-gene deletion wa
63 e partially restored in transfected X-linked adrenoleukodystrophy fibroblasts regardless of the chime
64             All eight patients with cerebral adrenoleukodystrophy had an average 80% decrease in norm
65                  The gene defect in X-linked adrenoleukodystrophy has been firmly established and the
66                                     X-linked adrenoleukodystrophy has two distinct neurological pheno
67                          Adult patients with adrenoleukodystrophy have a poor prognosis owing to deve
68 ts with childhood onset of cerebral X-linked adrenoleukodystrophy have been followed for 5-10 years a
69               We enrolled boys with cerebral adrenoleukodystrophy in a single-group, open-label, phas
70 s in corresponding amino acids in ALDP cause adrenoleukodystrophy in humans.
71                 Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease and rhizo
72  homozygous for Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease, and in
73                            Cerebral X-linked adrenoleukodystrophy is a devastating neurodegenerative
74 adult cerebral inflammatory form of X-linked adrenoleukodystrophy is a rapidly progressive neurodegen
75                                     X-linked adrenoleukodystrophy is a severe demyelinating neurodege
76                                     Cerebral adrenoleukodystrophy is a severe form of X-linked adreno
77                                      Because adrenoleukodystrophy is an X-linked disease, the affecte
78 ientific commentary on this article.X-linked adrenoleukodystrophy is caused by mutations in the ABCD1
79                                     X-linked adrenoleukodystrophy is caused by mutations in the perox
80                                     Cerebral adrenoleukodystrophy is characterized by demyelination a
81         The biochemical hallmark of X-linked adrenoleukodystrophy is the accumulation of very long ch
82       In six of seven patients with cerebral adrenoleukodystrophy lesions and follow-up imaging (2-24
83 imal models have been developed for X-linked adrenoleukodystrophy, metachromatic leukodystrophy and Z
84          Heterozygous women and the X-linked adrenoleukodystrophy mouse model often have the adrenomy
85                                  In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of
86 sease progression in advanced adult cerebral adrenoleukodystrophy (n = 1), or secondary disease progr
87 m, Zellweger syndrome (ZS), through neonatal adrenoleukodystrophy (NALD) to the least severe form, in
88 linical variants within the PBDs is neonatal adrenoleukodystrophy (NALD), a disease that is usually a
89 verse event, clinically progressive cerebral adrenoleukodystrophy, occurred in six [5%] of 116 patien
90 ut a likely role for this enzyme in X-linked adrenoleukodystrophy pathology.
91 ion of this protein in cells from a neonatal adrenoleukodystrophy patient specifically defective in P
92              A more mildly affected neonatal adrenoleukodystrophy patient was a compound heterozygote
93 ed GFP in human skin fibroblasts of X-linked adrenoleukodystrophy patients.
94 sembles that observed in cells from X-linked adrenoleukodystrophy patients.
95                                          The adrenoleukodystrophy protein (ALDP) and the 70-kDa perox
96                                          The adrenoleukodystrophy protein (ALDP) and the 70-kDa perox
97 somal ATP-binding cassette half-transporter, adrenoleukodystrophy protein (ALDP), are the primary cau
98 h significant identity to the human X-linked adrenoleukodystrophy protein (ALDP).
99 d sequence identity with two human proteins, adrenoleukodystrophy protein and peroxisomal membrane pr
100 TP-binding cassette (ABC) transporter ABCD1 (adrenoleukodystrophy protein, ALDP).
101 somal-membrane proteins, including the human adrenoleukodystrophy protein, required for the efficient
102 omal disorders, is caused by the lack of the adrenoleukodystrophy protein, with an accumulation of ve
103 ing, encodes a peroxisomal membrane protein (adrenoleukodystrophy protein; ALDP) that belongs to the
104 eatment, an increase in transcription of the adrenoleukodystrophy-related gene and the peroxin gene,
105                                     X-linked adrenoleukodystrophy, representing the other group of pe
106 ients with childhood-onset cerebral X-linked adrenoleukodystrophy shows the long-term beneficial effe
107  evaluate the new information about X-linked adrenoleukodystrophy that has been reported in 2002 and
108 ons in the gene encoding ALDP cause X-linked adrenoleukodystrophy; the role of ALDR and PMP70 in huma
109 data from 14 adult males with adult cerebral adrenoleukodystrophy treated with allogeneic haematopoie
110    Median age at diagnosis of adult cerebral adrenoleukodystrophy was 33 years (range 21-48 years).
111 g lesions suggestive of progressive cerebral adrenoleukodystrophy were randomly assigned (2:1 without
112 mmatory myeloneuropathic variant of X-linked adrenoleukodystrophy, where the disease process appears
113 st frequent peroxisomal disorder is X-linked adrenoleukodystrophy, which is caused by mutations in AB
114 n ABCD1 cause the neurodegenerative disease, adrenoleukodystrophy, which manifests as the spinal cord
115 used procedure for the diagnosis of X-linked adrenoleukodystrophy (X-ALD) and other peroxisomal disor
116 to study the phenotype evolution of X-linked adrenoleukodystrophy (X-ALD) and the relation between ax
117 sor imaging (DTI), in children with X-linked adrenoleukodystrophy (X-ALD) before and after haematopoi
118  assay, we determined the number of X-linked adrenoleukodystrophy (X-ALD) hemizygotes from the United
119                            Cerebral X-linked adrenoleukodystrophy (X-ALD) is a disorder of very-long-
120                                     X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative and
121                                     X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative diso
122                                     X-Linked adrenoleukodystrophy (X-ALD) is a neurodegenerative diso
123                                     X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder w
124                                     X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder w
125                                     X-linked adrenoleukodystrophy (X-ALD) is associated with elevated
126                      The peroxisomal disease adrenoleukodystrophy (X-ALD) is caused by loss of the tr
127                                     X-linked adrenoleukodystrophy (X-ALD) is characterized biochemica
128       The neurodegenerative disease X-linked adrenoleukodystrophy (X-ALD) is characterized by the abn
129                    Mutations in the X-linked adrenoleukodystrophy (X-ALD) protein cause accumulation
130                                     X-linked adrenoleukodystrophy (X-ALD) results from mutations in A
131                                     X-linked adrenoleukodystrophy (X-ALD), a potentially fatal neurom
132                                     X-linked adrenoleukodystrophy (X-ALD), an inherited peroxisomal d
133                                     X-linked adrenoleukodystrophy (X-ALD), the most frequent monogene
134 ystropy protein (ALDP) defective in X-linked adrenoleukodystrophy (X-ALD).
135 l death leading to demyelination in X-linked adrenoleukodystrophy (X-ALD).

 
Page Top