Adrenoleukodystrophy: phenotypic variability and implications for therapy.
about
A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression patternCurrent and future pharmacological treatment strategies in X-linked adrenoleukodystrophyProgression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil"The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosisAdrenoleukodystrophy: molecular genetics, pathology, and Lorenzo's oilMolecular cloning of cDNA encoding rat very long-chain acyl-CoA synthetaseTherapy of X-linked adrenoleukodystrophyIs skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acidsDiagnosis of inherited metabolic disorders affecting the nervous systemNerve conduction studies in adrenomyeloneuropathy.Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal.Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutationAdrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy.Pathophysiology of X-linked adrenoleukodystrophy.Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls.Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy.Peroxisomal dysfunction in inflammatory childhood white matter disorders: an unexpected contributor to neuropathologyMutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.Onset of adreno-leukodystrophy after medulloblastoma therapy: causal connection or coincidence?A mouse model for X-linked adrenoleukodystrophy.Case 1: A six-year-old with hyperactivityThe X-linked adrenoleukodystrophy (X-ALD) and oxidative stress.ABCD2 is abundant in adipose tissue and opposes the accumulation of dietary erucic acid (C22:1) in fatAdrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.Peroxisomal disorders: overview.Polyenoic very-long-chain fatty acids mobilize intracellular calcium from a thapsigargin-insensitive pool in human neutrophils. The relationship between Ca2+ mobilization and superoxide production induced by long- and very-long-chain fatty acids.Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy.X-linked adrenoleukodystrophy presenting as Addison's disease.Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds.Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.Brain metabolic impairment in non-cerebral and cerebral forms of X-linked adrenoleukodystrophy by proton MRS: identification of metabolic patterns by discriminant analysis.Treatment of adrenoleukodystrophy with bone marrow transplantation.The dorsal root ganglia in adrenomyeloneuropathy: neuronal atrophy and abnormal mitochondria.Discussion on: High dose immunoglobulin IV treatment in adrenoleukodystrophy.Mutational Analysis of an X-Linked Adrenoleukodystrophy (ALD) Patient with Detectable ALD Protein
P2860
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P2860
Adrenoleukodystrophy: phenotypic variability and implications for therapy.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
1992年论文
@zh
1992年论文
@zh-cn
name
Adrenoleukodystrophy: phenotypic variability and implications for therapy.
@ast
Adrenoleukodystrophy: phenotypic variability and implications for therapy.
@en
type
label
Adrenoleukodystrophy: phenotypic variability and implications for therapy.
@ast
Adrenoleukodystrophy: phenotypic variability and implications for therapy.
@en
prefLabel
Adrenoleukodystrophy: phenotypic variability and implications for therapy.
@ast
Adrenoleukodystrophy: phenotypic variability and implications for therapy.
@en
P2093
P2860
P356
P1476
Adrenoleukodystrophy: phenotypic variability and implications for therapy.
@en
P2093
Shankroff J
P2860
P2888
P304
P356
10.1007/BF01799621
P577
1992-01-01T00:00:00Z