Keywords: Very-long-chain fatty acid; Phytanic acid; Pristanic acid; Plasmalogens; Zellweger syndrome; X-linked adrenoleukodystrophy; Peroxisomal diseases;
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: ABC; ATP-binding cassette; acyl-Cer; acylceramide; ACS; acyl-CoA synthetase; ACSBG; acyl-CoA synthetase bubblegum; ACSF; acyl-CoA synthetase family; ACSL; acyl-CoA synthetase long-chain; ACSM; acyl-CoA synthetase medium-chain; ACSS; acyl-CoA synthetase sh
Keywords: Lipid metabolism; Plasmalogen; Zellweger spectrum disorder; D-bifunctional protein deficiency; X-linked adrenoleukodystrophy; Rhizomelic chondrodysplasia punctata;
Keywords: gLE; genetic leukoencephalopathy; CNS; central nervous system; MRI; magnetic resonance imaging; MSUD; Maple Syrup Urine Disease; ClC-2; Chloride Ion Channel 2; MLC; Megalencephalic Leukoencephalopathy with subcortical cysts; X-ALD; X-linked Adrenoleukodys
Keywords: X-ALD; X-linked adrenoleukodystrophy; ADLD; Adult onset autosomal dominant leukodystrophy; AGS; Aicardi-Goutières syndrome; AxD; Alexander disease; CER; Comparative effectiveness research; CT; Computed tomography; CTX; Cerebrotendinous xanthomatosis; G
Keywords: LD; Leukodystrophies; gLE; Genetic leukoencephalopathy; MR; Magnetic resonance; MRI; Magnetic resonance imaging; GLIA; Global Leukodystrophy Initiative; CNS; Central nervous system; SIMD; Society for Inherited Metabolic Disorders; VWM; Vanishing white mat
Keywords: X-linked adrenoleukodystrophy; Oxidative damage; Mitochondrial dysfunction; Peroxisome; Very long-chain fatty acids; Proteasome; Autophagy;
Keywords: Peroxisome; Hydrogen peroxide; Lipid second messenger; Mitochondrial dysfunction; Age-related diseases; AA; arachidonic acid; DHA; docosahexaenoic acid; ER; endoplasmic reticulum; GSH; reduced glutathione; GSSH; oxidized glutathione; LONP2; peroxisomal Lo
Keywords: AD; Alzheimer's disease; ALD; X-linked adrenoleukodystrophy; ALDRP; adrenoleukodystrophy-related protein; ALDP; adrenoleukodystrophy protein; ALS; amyotrophic lateral sclerosis; ATF-2; activating transcription factor 2; BBB; blood-brain barrier; AP-1; a
Keywords: Flow-injection analysis; Tandem mass spectrometry; Newborn screening; Dried blood spot; X-linked adrenoleukodystrophy
Keywords: ABCD1 gene; Addison disease; Childhood cerebral ALD; Novel mutation; Phenotypic variability; VLCFA; X-linked adrenoleukodystrophy
A novel temporal pattern of childhood cerebral X-linked adrenoleukodystrophy
Keywords: X-linked adrenoleukodystrophy; Neuroradiological findings; Neurocognitive profile;
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers
Keywords: Lysosomal storage disease; Inborn errors of metabolism; Enzyme deficiency; C26-LPC; 1-hexacosanoyl-2-hydroxy-sn-glycero-3-phosphocholine; DBS; dried blood spot on a newborn screening card; GALT; galactose-1-phosphate uridyltransferase; LC-MS/MS; liquid ch
Modulation of Kv3.1b potassium channel level and intracellular potassium concentration in 158N murine oligodendrocytes and BV-2 murine microglial cells treated with 7-ketocholesterol, 24S-hydroxycholesterol or tetracosanoic acid (C24:0)
Keywords: Potassium; Kv3.1b; 7-Ketocholesterol; 24S-hydroxycholesterol; Oxysterols; Tetracosanoic acid (C24:0); 158N cells; BV-2â¯cells; 7KC; 7-ketocholesterol; 24S-OHC; 24S-hydroxycholesterol; C24:0; tetracosanoic acid; K+; Potassium; AD; Alzheimer's disease; MS;
Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy
Keywords: X-ALD; X-linked adrenoleukodystrophy; VLCFA; very long chain fatty acids; CALD; cerebral X-ALD; AMN; adrenomyeloneuropathy; CCALD; childhood cerebral X-ALD; HSCT; hematopoietic stem cell transplantation; DBS; dried blood spots; NDBS; newborn dried blood s
Original articleLong-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study
Keywords: X-linked adrenoleukodystrophy; Addison's disease; Very long chain fatty acids; Leukodystrophy; AI; adrenal insufficiency; ACTH; adrenocorticotropin; CCALD; childhood cerebral X-ALD; FSIQ; full scale intelligence quotient (IQ) score; HSCT; hematopoietic st
7-Ketocholesterol is increased in the plasma of X-ALD patients and induces peroxisomal modifications in microglial cells: Potential roles of 7-ketocholesterol in the pathophysiology of X-ALD
Keywords: 7KC; 7-ketocholesterol; X-ALD; X-linked adrenoleukodystrophy; HODE; hydroxyoctadecadienoic acid; CCALD; childhood cerebral ALD; ACALD; adolescent cerebral ALD; AMN; adrenomyeloneuropathy; VLCFA; very long chain fatty acids; Microglial BV-2 cells; 7-Ketoch
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
Keywords: AAV; adeno-associated virus; AED; anti-epileptic drug(s); DHA; docosahexaenoic acid; DHCA; dihydroxycholestanoic acid; ERG; electroretinogram; G-tube; gastrostomy tube; IRD; infantile Refsum disease; LC-MS/MS; liquid chromatography/tandem mass spectrometr
Endocrine Dysfunction in X-Linked Adrenoleukodystrophy
Keywords: X-linked adrenoleukodystrophy; Adrenomyeloneuropathy; Adrenal insufficiency; Addison disease; Testicular dysfunction; Androgen deficiency; ABCD1; Very-long-chain fatty acids;
Combination of a Haploidentical Stem Cell Transplant With Umbilical Cord Blood for Cerebral X-Linked Adrenoleukodystrophy
Keywords: X-linked adrenoleukodystrophy; CCALD; haploidentical transplantation; ABCD1;
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy
Keywords: Lysophosphatidylcholine; X-linked adrenoleukodystrophy; Newborn screening; Tandem mass spectrometry; Dried blood spot; Peroxisomes;
Disease specific therapies in leukodystrophies and leukoencephalopathies
Keywords: X-ALD; X-linked Adrenoleukodystrophy; AGS; Aicardi-Goutières Syndrome; CSF; cerebrospinal fluid; IFNα; α-interferon; RNA; ribonucleic acid; DNA; deoxyribonucleic acid; SLE; systemic lupus erythematosus; AxD; Alexander disease; GFAP; growth factor ass
Astrocytes and mitochondria from adrenoleukodystrophy protein (ABCD1)-deficient mice reveal that the adrenoleukodystrophy-associated very long-chain fatty acids target several cellular energy-dependent functions
Keywords: ABCD1; peroxisomal ATP-binding cassette transporter 1; ALDP; adrenoleukodystrophy protein; AMN; adrenomyeloneuropathy; cALD; cerebral ALD; CPA; cyclopiazonic acid; CRC; Ca2Â + retention capacity; DHE; dihydroethidium; DMEM; Dulbecco's modified Eagle's med
Late-Onset Zellweger Spectrum Disorder Caused by PEX6 Mutations Mimicking X-Linked Adrenoleukodystrophy
Keywords: peroxisome biogenesis disorder; Zellweger spectrum disorder; X-linked adrenoleukodystrophy; PEX6 gene; late onset
Mitochondrial dysfunction and oxidative damage cooperatively fuel axonal degeneration in X-linked adrenoleukodystrophy
Keywords: X-linked adrenoleukodystrophy; Oxidative damage; Mitochondria dysfunction; Very long-chain fatty acids; Cyclophilin D; Proteasome;
Pathophysiology of X-linked adrenoleukodystrophy
Keywords: ABC transporter; Axonopathy; Demyelination; Inflammation; Leukodystrophy; Peroxisome; ABCD; ATP-binding cassette transporter subfamily D; AMN; adrenomyeloneuropathy; CALD; cerebral adrenoleukodystrophy; HSCT; hematopoietic stem cell transplantation; VLCFA
Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening
Keywords: DBS; Dried-blood spot; C26:0-LPC; 1-hexacosanoyl-2-hydroxy-sn-glycero-3-phosphocholine; X-ALD; X-linked adrenoleukodystrophy; PBD; peroxisomal biogenesis disorder; VLCFA; very long-chain fatty acid; LPC; lyso-phosphatidylcholine; HPLC-ESI-MS/MS; high-perf
Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy
Keywords: DBS; dried blood spot; Lyso PC; lysophosphatidyl choline; LC-MS/MS; liquid chromatography tandem mass spectrometry; MRM; multiple reaction monitoring; PBD; Peroxisomal Biogenesis Disorders; X-ALD; X-linked adrenoleukodystrophy; X-linked adrenoleukodystr
Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders
Keywords: Peroxisomal disorder; Zellweger spectrum disorder; Peroxisomal acyl-CoA oxidase deficiency; D-bifunctional protein deficiency; X-linked adrenoleukodystrophy; Rhizomelic chondrodysplasia punctata
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;
Molecular diagnosis of X-linked adrenoleukodystrophy: Experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations
Keywords: X-ALD; X-linked adrenoleukodystrophy; AMN; adrenomyeloneuropathy; ALDP; X-ALD protein; ABC; ATP-binding cassette; VLCFA; very long chain fatty acid; PCR-RFLP; polymerase chain reaction-restriction fragment length polymorphism; ARMS; amplification refracto
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism
Keywords: ABCD1; X-linked adrenoleukodystrophy; Adrenomyeloneuropathy; Mosaicism, gonadal; Mosaicism, somatic; De novo mutations;
Newborn Bloodspot Screening for Lysosomal Storage Disorders
Keywords: ACMG; American College of Medical Genetics; DBS; Dried blood spot; ERT; Enzyme replacement therapy; HSCT; Hematopoietic stem cell transplantation; LSD; Lysosomal storage disorders; MPS; Mucopolysaccharidosis; MS/MS; Tandem mass spectrometry; NBS; Newborn
X-linked adrenoleukodystrophy: Clinical course and minimal incidence in South Brazil
Keywords: X-linked adrenoleukodystrophy; ALD; Minimal incidence; Hematopoietic stem cell transplantation; Stable cerebral form
X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype
Keywords: ABCD2; ALDR; X-linked adrenoleukodystrophy; X-ALD phenotypes; Modifier gene; Genotype phenotype; ABC-transporters; Peroxisomes; Peroxisomal disorders; Inflammation; Neurodegeneration; Modifier locus; Association study; Linkage analysis; Segregation analys
Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene
Keywords: X-linked adrenoleukodystrophy; L160P mutation in ABCD1 gene
Preimplantation genetic diagnosis of X-linked adrenoleukodystrophy with gender determination using multiple displacement amplification
Keywords: MDA; multiple displacement amplification; PGD; preimplantation genetic diagnosis; ALD; X-linked adrenoleukodystrophy
Increasing Exotropia and Decreasing Vision in a School-aged Boy
Keywords: exotropia; visual loss; X-linked adrenoleukodystrophy
Diagnosis of X-linked adrenoleukodystrophy in blood leukocytes
Keywords: X-linked adrenoleukodystrophy; X-ALD; Gas chromatography-mass spectrometry; GC–MS; Very long chain fatty acids; Immunofluorescence; ALDP; Adrenoleukodystrophy protein
X-linked adrenoleukodystrophy: Very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment
Keywords: X-linked adrenoleukodystrophy; Peroxisomes; Fatty acids; ABC transporters
Molecular organization of peroxisomal enzymes: Protein–protein interactions in the membrane and in the matrix
Keywords: Catalase; l-bifunctional enzyme; Peroxisomes; β-Oxidation; X-linked adrenoleukodystrophy; Very long chain acyl-CoA synthetase
Adrénoleucodystrophie liée à l'X chez une proposante symptomatique : présentation clinique, diagnostic biologique et conséquences familiales
Keywords: Adrénoleucodystrophie liée à l'X; Conseil génétique; X-linked adrenoleukodystrophy; Carriers; Genetic; Genetic counseling;
Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening
Keywords: ACTH; Adrenocorticotropic hormone; ART; Adrenal replacement therapy; VLCFA; Very long-chain fatty acids; X-ALD; X-linked adrenoleukodystrophy;
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;
Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy
Keywords: X-linked adrenoleukodystrophy; Very long-chain fatty acids; VLCFA; Peroxisome; Elongation; Lorenzo's oil; Stable-isotope; β-Oxidation;
Function of prokaryotic and eukaryotic ABC proteins in lipid transport
Keywords: ABC; ATP binding cassette; APLT; aminophospholipid translocase; Cer; ceramide; FA; fatty acid; GlcCer; glucosylceramide; HDL; high density lipoprotein; LTC; leukotriene C; nbd; [N-(7-nitrobenz-2-oxa-1,3-diazol-4-yl)amino]; NBD; nucleotide binding domain;