X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes
about
Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophyAltered expression of ALDP in X-linked adrenoleukodystrophyPeroxisomes in brain development and functionThe genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosisABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlationsGenomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in IndiaMolecular cloning of cDNA encoding rat very long-chain acyl-CoA synthetaseX-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.Myelin and disorders that affect the formation and maintenance of this sheath.Pathophysiology of X-linked adrenoleukodystrophy.Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls.Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.ABCD1 deletion-induced mitochondrial dysfunction is corrected by SAHA: implication for adrenoleukodystrophy.Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.A mouse model for X-linked adrenoleukodystrophy.An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree.A hierarchical Bayesian approach for combining pharmacokinetic/pharmacodynamic modeling and Phase IIa trial design in orphan drugs: Treating adrenoleukodystrophy with Lorenzo's oil.Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy.Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.The four murine peroxisomal ABC-transporter genes differ in constitutive, inducible and developmental expression.Management of X-linked adrenoleukodystrophy in Morocco: actual situation.Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.Mouse models of myelin diseases.Turning skin into brain: using patient-derived cells to model X-linked adrenoleukodystrophy.Successful cord blood transplantation with reduced-intensity conditioning for childhood cerebral X-linked adrenoleukodystrophy at advanced and early stages.Etiology and treatment of adrenoleukodystrophy: new insights from Drosophila.
P2860
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P2860
X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes
description
1994 nî lūn-bûn
@nan
1994 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年学术文章
@wuu
1994年学术文章
@zh-cn
1994年学术文章
@zh-hans
1994年学术文章
@zh-my
1994年学术文章
@zh-sg
1994年學術文章
@yue
name
X-linked adrenoleukodystrophy ...... ng with 5 different phenotypes
@ast
X-linked adrenoleukodystrophy ...... ng with 5 different phenotypes
@en
X-linked adrenoleukodystrophy ...... ng with 5 different phenotypes
@nl
type
label
X-linked adrenoleukodystrophy ...... ng with 5 different phenotypes
@ast
X-linked adrenoleukodystrophy ...... ng with 5 different phenotypes
@en
X-linked adrenoleukodystrophy ...... ng with 5 different phenotypes
@nl
prefLabel
X-linked adrenoleukodystrophy ...... ng with 5 different phenotypes
@ast
X-linked adrenoleukodystrophy ...... ng with 5 different phenotypes
@en
X-linked adrenoleukodystrophy ...... ng with 5 different phenotypes
@nl
P2093
P3181
P356
P1476
X-linked adrenoleukodystrophy ...... ng with 5 different phenotypes
@en
P2093
P304
P3181
P356
10.1006/BBRC.1994.2855
P407
P577
1994-12-30T00:00:00Z