Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.
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Altered expression of ALDP 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 diagnosisA review of odd-chain fatty acid metabolism and the role of pentadecanoic Acid (c15:0) and heptadecanoic Acid (c17:0) in health and diseaseAdrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapyAdrenoleukodystrophy: molecular genetics, pathology, and Lorenzo's oilMutational analysis of patients with X-linked adrenoleukodystrophyFamilial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementiaGenomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in IndiaC26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and ManIdentification of a substrate-binding site in a peroxisomal beta-oxidation enzyme by photoaffinity labeling with a novel palmitoyl derivativeX-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acidsMembrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy.Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophyAbcd2 is a strong modifier of the metabolic impairments in peritoneal macrophages of ABCD1-deficient miceVery long chain fatty acids in X-linked adrenoleukodystrophy brain after treatment with Lorenzo's oil.Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls.X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patientsPeroxisomal bifunctional enzyme deficiencyRational diagnostic strategy for Zellweger syndrome spectrum patientsX-linked adrenoleukodystrophy: biochemical diagnosis and enzyme defect.Adrenoleukodystrophy: phenotypic variability and implications for therapy.Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females.Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy.X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.A mouse model for X-linked adrenoleukodystrophy.A selective detection of lysophosphatidylcholine in dried blood spots for diagnosis of adrenoleukodystrophy by LC-MS/MS.Enhanced production of nitric oxide, reactive oxygen species, and pro-inflammatory cytokines in very long chain saturated fatty acid-accumulated macrophages.An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree.25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome.Biochemical aspects of X-linked adrenoleukodystrophy.Genetic and phenotypic variability of optic neuropathies.Prenatal and perinatal diagnosis of peroxisomal disorders.X-linked adrenoleukodystrophy: pathogenesis and treatment.Genetic Leukoencephalopathies in Adults.Increasing acetyl-CoA metabolism attenuates injury and alters spinal cord lipid content in mice subjected to experimental autoimmune encephalomyelitis.Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy.Adrenoleukodystrophy: biochemical procedures in diagnosis, prevention and treatment.
P2860
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P2860
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.
description
1981 nî lūn-bûn
@nan
1981 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1981 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1981年の論文
@ja
1981年論文
@yue
1981年論文
@zh-hant
1981年論文
@zh-hk
1981年論文
@zh-mo
1981年論文
@zh-tw
1981年论文
@wuu
name
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.
@ast
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.
@en
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.
@nl
type
label
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.
@ast
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.
@en
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.
@nl
prefLabel
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.
@ast
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.
@en
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.
@nl
P2093
P356
P1433
P1476
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.
@en
P2093
Kishimoto Y
O'Neill BP
Schulman JD
P304
P356
10.1212/WNL.31.10.1241
P407
P577
1981-10-01T00:00:00Z