Keywords: Adrenoleukodystrophy; Adrenomyeloneuropathy; Pain pathways; Spinothalamic tract; Nociceptive pathways; Laser evoked potentials;
مقالات ISI (ترجمه نشده)
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Keywords: ABC transporters; ATP binding cassette transporters; ALD; adrenoleukodystrophy; APL; acute promyelocytic leukemia; APTEDB; extra-domain B-specific aptide; ATP; adenosine triphosphate; ATRA; all-trans retinoic acid; BBB; blood-brain-barrier; BCRP; breast c
Keywords: Metachromatic leukodystrophy; Child; Gallbladder; Adrenoleukodystrophy; Krabbe disease;
Keywords: Gene therapy; Viral vectors; Neurodegeneration; Brain tumors; Metabolic diseases; Lysosomal storage diseases; AAV; adeno-associated virus; Ad; adenoviral; ALD; adrenoleukodystrophy; AD; Alzheimer's disease; APP; amyloid precursor protein; ALS; amyotrophic
Keywords: Peroxisomes; Myelin; Adrenoleukodystrophy; Axoglial metabolism;
Keywords: Adrenoleukodystrophy; LC-MS/MS; DBS
Intrathecal baclofen treatment an option in X-linked adrenoleukodystrophy
Keywords: Intrathecal baclofen; ITB; X-ALD; Adrenoleukodystrophy; Spasticity;
Redox regulation of proteasome function
Keywords: Abcd1; ATP binding cassette subfamily D member 1; AD; Alzheimer's disease; ALD; adrenoleukodystrophy; ALS; amyotrophic lateral sclerosis; AP-1; activator protein-1; APP; amyloid precursor protein; CNS; central nervous system; DDI; DNA-damage inducible 1;
Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy
Keywords: Adrenoleukodystrophy; Lipotoxicity; Endoplasmic reticulum stress; Fatty acids; Neurodegeneration;
CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids
Keywords: Adrenoleukodystrophy; Modifier gene; Dicarboxylic acids; Cytochrome P450; Omega-oxidation; Peroxisomes;
Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines
Keywords: Adrenoleukodystrophy; Newborn screening; Peroxisomal disorders; Adrenal insufficiency; Genetic counseling;
Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis
Keywords: ALDP; adrenoleukodystrophy protein; AMN; adrenomyeloneuropathy; ELOVL; elongation of very long-chain fatty acids; PPAR; peroxisome proliferator-activated receptor; VLCFA; very long-chain fatty acids; Adrenoleukodystrophy; Peroxisome; Substrate-reduction;
Regulation of the adrenoleukodystrophy-related gene (ABCD2): Focus on oxysterols and LXR antagonists
Keywords: LXR antagonists; Oxysterols; Adrenoleukodystrophy; Peroxisome; ABC transporters; Neurodegenerative disorders;
Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: A revisit
Keywords: Adrenoleukodystrophy; Statin;
Greffes non apparentées de sang placentaire dans les maladies métaboliques
Keywords: Greffe de sang de cordon; Hurler; Adrénoleucodystrophie; Leucodystrophie métachromatique; Cord blood transplant; Hurler; Adrenoleukodystrophy; Metachromatic leukodystrophy;
The effect of bone marrow transplantation on oxidative stress in X-linked adrenoleukodystrophy
Keywords: Bone marrow transplantation; Adrenoleukodystrophy; Oxidative stress; Free radicals; Lipid peroxidation; Protein damage;
Adrenoleukodystrophy in female heterozygotes: Underrecognized and undertreated
Keywords: Adrenoleukodystrophy; Adrenomyeloneuropathy; Symptomatic heterozygotes; Skewed X-inactivation
Peroxisomal ABC transporters: Structure, function and role in disease
Keywords: ABCD; ATP-binding cassette protein subfamily D; AMN; adrenomyeloneuropathy; CCALD; child cerebral ALD; CNS; central nervous system; DHCA; dihydroxycholestanoic acid; DHA; docosahexaenoic acid; GFP; green fluorescent protein; iPS; induced pluripotent stem;
Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: A paradigm for multifactorial neurodegenerative diseases?
Keywords: Oxidative stress; Neurodegenerative disease; Adrenoleukodystrophy; Metabolic failure; Mitochondria; Fatty acid
A role for myelin-associated peroxisomes in maintaining paranodal loops and axonal integrity
Keywords: Myelin; Peroxisome; PEX5; Adrenoleukodystrophy; Energy-metabolism;
Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases
Keywords: Peroxisomal diseases; Zellweger syndrome; Adrenoleukodystrophy; Diagnostic screening system
Measuring adrenal autoantibody response: Interlaboratory concordance in the first international serum exchange for the determination of 21-hydroxylase autoantibodies
Keywords: 21OHAb; 21-hydroxylase autoantibodies; AAD; Autoimmune Addison's Disease; ACA; Adrenal Cortex Autoantibodies; AHC; adrenal hypoplasia congenita; ALD; adrenoleukodystrophy; APS; autoimmune polyendocrine syndrome; AUC; area under ROC curve; CI; confidence i
Efferent and afferent evoked potentials in patients with adrenomyeloneuropathy
Keywords: Magnetic stimulation; Evoked potential; Adrenoleukodystrophy; Adrenomyeloneuropathy; Axonopathy; Myelinopathy
Choroby peroksysomalne
Keywords: choroby zaburzenia biogenezy peroksysomu; deficyt peroksysomalnego enzymu; zespóÅ Zellwegera; adrenoleukodystrofia; peroxisomal biogenesis disorders; single peroxisomal enzyme deficiencies; Zellweger syndrome; adrenoleukodystrophy;
Peroxisomes, lipid metabolism and lipotoxicity
Keywords: Fatty acid oxidation; Fatty acid; Plasmalogen; Bile acid; Zellweger syndrome; Adrenoleukodystrophy; Refsum disease
Induction of the adrenoleukodystrophy-related gene (ABCD2) by thyromimetics
Keywords: Peroxisome; ABC transporters; Adrenoleukodystrophy; Thyroid hormone; Gene expression
Visual function of a patient with advanced adrenoleukodystrophy: Comparison of luminance and color contrast sensitivities
Keywords: Adrenoleukodystrophy; Residual visual capacity; Contrast sensitivity; Luminance; Color
Effect of dietary polyunsaturated fatty acids on the expression of peroxisomal ABC transporters
Keywords: Peroxisome; ABC transporters; Adrenoleukodystrophy; PUFAALA, α-linolenic acid; DHA, docosahexaenoic acid; LA, linoleic acid; PUFA, polyunsaturated fatty acids; VLCFA, very-long-chain fatty acids; X-ALD, X-linked adrenoleukodystrophy
A simple and sensitive liquid chromatographic method for the analysis of free docosanoic, tetracosanoic and hexacosanoic acids in human plasma as fluorescent derivatives
Keywords: Very-long-chain free fatty acids; Adrenoleukodystrophy; Biomarker; Human plasma; Fluorimetric liquid chromatography
Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy
Keywords: X-ALD; Adrenoleukodystrophy; Cholesterol; ABCD1; Peroxisome; SCD;
RNAi-mediated silencing of ABCD3 gene expression in rat C6 glial cells: A model system to study PMP70 function
Keywords: ABC transporters; ABCD3 (PMP70); RNA interference; Peroxisome; Adrenoleukodystrophy
Virchow-Robin spaces on magnetic resonance images of children with adrenoleukodystrophy
Keywords: Virchow-robin spaces; Perivascular; Leukodystrophy; Demyelination; Inflammation; Adrenoleukodystrophy
Hematopoietic Cell Therapy for Metabolic Disease
Keywords: ALD; Adrenoleukodystrophy; CNS; Central nervous system; ERT; Enzyme replacement therapy; GLD; Globoid cell leukodystrophy; HCT; Hematopoietic stem cell transplantation; LSD; Lysosomal storage disease; M6P; Mannose 6-phosphate; MAPC; Multipotent adult prog
Immunopathogenesis of adrenoleukodystrophy: Current understanding
Keywords: Adrenoleukodystrophy; Immune system; Hematopoietic stem cell transplantation; Cytokines; CD1
Adrénoleucodystrophie liée à l'X
Keywords: Adrenoleukodystrophy; Adrenomyeloneuropathy; Peroxisome; ABC-transporter; Leukodystrophy; X-linked; Bone marrow transplantation; Hematopoietic stem cell; Gene therapyAdrénoleucodystrophie; Adrénomyéloneuropathie; Maladie d'Addison; Peroxysome; Transporteu
Outcomes of Unrelated Umbilical Cord Blood Transplantation for X-Linked Adrenoleukodystrophy
Keywords: Umbilical cord blood transplantation; Neurodevelopmental outcomes; Adrenoleukodystrophy
Dehydroepiandrosterone up-regulates the Adrenoleukodystrophy-related gene (ABCD2) independently of PPARα in rodents
Keywords: Adrenoleukodystrophy; DHEA; ABC transporters; Peroxisome; PPARα
Therapy of X-Linked Adrenoleukodystrophy
Keywords: Adrenoleukodystrophy; adrenomyeloneuropathy; adrenal insufficiency; bone marrow transplant; very long chain fatty acids; peroxisomal disorders; neonatal screening;
A novel cell model to study the function of the adrenoleukodystrophy-related protein
Keywords: Adrenoleukodystrophy; ABCD2 (ALDR); Peroxisome; H4IIEC3; Tet-On; ABC transporters
The effect of Lorenzo's oil on oxidative stress in X-linked adrenoleukodystrophy
Keywords: Lorenzo's oil; Adrenoleukodystrophy; Glycerol trierucate; Glycerol trioleate; Oxidative stress; Free radicals; Lipid peroxidation
Auditory brainstem response findings and peripheral auditory sensitivity in adrenoleukodystrophy
Keywords: Addison's disease; Adrenoleukodystrophy; Adrenomyeloneuropathy; Auditory brainstem response; Interpeak latency intervals; MRI Loes score; EDSS; Very long chain fatty acid
Evolution of the vertebrate ABC gene family: Analysis of gene birth and death
Keywords: ABC, ATP-binding cassette; NBF, nucleotide binding fold; TMD, transmembrane domainATP-binding cassette; transporter; evolution; lipid transport; drug resistance; cystic fibrosis; adrenoleukodystrophy
X-linked adrenoleukodystrophy: Clinical, biochemical and pathogenetic aspects
Keywords: Adrenoleukodystrophy; Peroxisome; ABC-transporter; Leukodystrophy; Neurodegeneration; Mouse model
Peroxisomal disorders: The single peroxisomal enzyme deficiencies
Keywords: Peroxisomes; Alpha-oxidation; Beta-oxidation; Zellweger syndrome; Refsum disease; Adrenoleukodystrophy; Hyperoxaluria; Plasmalogen
Natural history of X-linked adrenoleukodystrophy in Japan
Keywords: X-linked adrenoleukodystrophy; Natural history; Phenotype; Progression; Kaplan-Meier plot; ALD; adrenoleukodystrophy; AMN; adrenomyeloneuropathy; VLCFA; very long chain fatty acid; OPC; olivo-ponto-cerebellar; BMT; bone marrow transplantation;
2004 Pathogenesis of Rare Neuroimmunologic Disorders, Hyatt Regency Inner Harbor, Baltimore, MD, August 19th 2004-August 20th 2004
Keywords: ADEM; Acute disseminated encephalomyelitis; AchR; Acetylcholine receptor; ALD; Adrenoleukodystrophy; ALDP; Protein encoded by X-ALD gene ABCD1; AMAN; Acute motor axonal neuropathy; APC; Antigen presenting cell; APL; Altered peptide ligand; C. jejuni; Camp