AdrenoLeukoDystrophy
Blong Yang
http://www.uwec.edu/
Introduction to Adrenoleukodystrophy (ALD)
CAMILLA MAJANO, SHANNON QUIRK
http://academic.regis.edu/
Peroxisomes
http://voh.chem.ucla.edu/
Microbodies/Peroxisome
Jim Bernoski
http://academic.keystone.edu/
Genetic Disease
http://schools.nashua.edu/
Adrenoleukodystrophy
https://cbase.som.sunysb.edu/
Nutrition Therapy in Neurologic Disorders
http://www.unm.edu/~nutr/
Lorenzo’s Oil, Adrenoleukodystrophy (ALD)
http://www.udel.edu/
PhenCode: Linking Human Mutation and Genome
Belinda Giardine, Cathy Riemer, Ross Hardison, Webb Miller, Jim Kent
http://www.bx.psu.edu/
X-linked adrenoleukodystrophy
Wayne V. Vedeckis, Ph.D
http://www.medschool.lsuhsc.
Adrenoleukodystrophy (ALD)
http://class.fst.ohio-state.
Aadrenoleukodystrophy- sex-linked enzyme deficiency
http://www.hartnell.edu/
Inherited metabolic disorders
http://www.mcw.edu/
Human diseases associated with an ABC Transporter
Michael M. Gottesman
http://sst.nsu.edu/
Inborn Errors of Metabolism
Mike Antoniello, MD
http://www.colby.edu/
Over 1000 Published articles are available latest 400 are listed below
- Chronic immune-mediated axonal polyneuropathy following umbilical cord blood transplant for childhood-onset cerebral adrenoleukodystrophy.
- A Case of Adult-onset Adrenoleukodystrophy with Frontal Lobe Dysfunction: A Novel Point Mutation in the ABCD1 Gene.
- Dietary treatment for X-linked adrenoleukodystrophy: is "Lorenzós oil" useful?
- The effect of bone marrow transplantation on oxidative stress in X-linked adrenoleukodystrophy.
- The Inflammatory Response in Acyl-CoA Oxidase 1 Deficiency (Pseudoneonatal Adrenoleukodystrophy).
- Diffuse hair loss in Addison disease: a reason for X-linked adrenoleukodystrophy screening.
- Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening.
- X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects.
- Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.
- Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.
- Failure of repeated cyclophosphamide pulse therapy in childhood cerebral X-linked adrenoleukodystrophy.
- No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy.
- Lentiviral hematopoietic cell gene therapy for X-linked adrenoleukodystrophy.
- Elevated cerebral spinal fluid cytokine levels in boys with cerebral adrenoleukodystrophy correlates with MRI severity.
- Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: A paradigm for multifactorial neurodegenerative diseases?
- A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy.
- Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.
- Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.
- CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy.
- [X-linked adrenoleukodystrophy (X-ALD)].
- SOD2 as a potential modifier of X-linked adrenoleukodystrophy clinical phenotypes.
- Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy.
- A mixture of oleic, erucic and conjugated linoleic acids modulates cerebrospinal fluid inflammatory markers and improve somatosensorial evoked potential in X-linked adrenoleukodystrophy female carriers.
- Effectiveness of valproate for the treatment of manic-like behavior in X-linked adrenoleukodystrophy.
- Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreated.
- Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy.
- Clinical utility gene card for: adrenoleukodystrophy.
- Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy.
- Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy.
- Brain fludeoxyglucose F 18 positron emission tomography hypometabolism in magnetic resonance imaging-negative x-linked adrenoleukodystrophy.
- Diffusion-weighted Magnetic Resonance Imaging in the Early Diagnosis of Neonatal Adrenoleukodystrophy.
- Adult-onset adrenoleukodystrophy heralded by auditory hallucinations and delusions.
- Turning skin into brain: using patient-derived cells to model X-linked adrenoleukodystrophy.
- Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.
- Successful cord blood transplantation with reduced-intensity conditioning for childhood cerebral X-linked adrenoleukodystrophy at advanced and early stages.
- Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy.
- Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients.
- X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
- Identification of the occipito-pontine tract using diffusion-tensor fiber tracking in adult-onset adrenoleukodystrophy with topographic disorientation.
- Adrenoleukodystrophy patient perspective: turning despair into a gene therapy breakthrough.
- [Association of genetic polymorphisms in methionine metabolism genes with X-linked adrenoleukodystrophy].
- Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report.
- [Adrenoleukodystrophy. An inusual cause of primary adrenal insufficiency].
- Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
- Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
- Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
- [X-linked adrenoleukodystrophy or the trap of making commonplace of child's psycho-cognitive disorders].
- New treatment of free-radical scavenger in adrenoleukodystrophy.
- Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy.
- Is subclinical adrenal failure in adrenoleukodystrophy/adrenomyeloneuropathy reversible?
- Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation.
- Pericarditis as the presenting feature of adrenoleukodystrophy.
- X-Linked adrenoleukodystrophy in a 7-year-old boy presenting with psychiatric symptoms.
- Molecular diagnosis of X-linked adrenoleukodystrophy: experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations.
- Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes.
- Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy.
- Correlating quantitative MR imaging with histopathology in X-linked adrenoleukodystrophy.
- Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family.
- Postoperative adrenal crisis in an adolescent with Loeys-Dietz syndrome and undiagnosed adrenoleukodystrophy.
- Evaluation of neuroinflammation in X-linked adrenoleukodystrophy.
- Substrate specificity overlap and interaction between adrenoleukodystrophy protein (ALDP/ABCD1) and adrenoleukodystrophy-related protein (ALDRP/ABCD2).
- Teaching Neuroimages: adrenoleukodystrophy presenting as raised intracranial pressure.
- [Gene therapy of x-linked adrenoleukodystrophy using hematopoietic stem cells and a lentiviral vector].
- Adrenoleukodystrophy.
- A commentary on Diagnostic and follow-up system for X-linked adrenoleukodystrophy: a comprehensive model for 'treatable' genetic diseases.
- X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.
- ABC subfamily D proteins and very long chain fatty acid metabolism as novel targets in adrenoleukodystrophy.
- Invariant NKT cells in adrenoleukodystrophy patients and mice.
- Two novel multiple mutations in chinese patients with adrenoleukodystrophy.
- Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy.
- Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis.
- A rapid and sensitive protocol for prenatal molecular diagnosis of X-linked adrenoleukodystrophy.
- Unusual neuroimaging in a young boy with cerebral X-linked adrenoleukodystrophy.
- 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.
- Childhood cerebral X-linked adrenoleukodystrophy more than 5 years after hematopoietic cell transplantation: the first case from Serbia and southeastern Europe.
- Two brothers with X linked adrenoleukodystrophy.
- Hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy in X-linked adrenoleukodystrophy.
- Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy.
- Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis.
- Biochemical aspects of X-linked adrenoleukodystrophy.
- General aspects and neuropathology of X-linked adrenoleukodystrophy.
- Schilder's disease a heterogenous group of disorders known as X-linked adrenoleukodystrophy. Foreword.
- Anterior pattern disease in adrenoleukodystrophy.
- Teaching NeuroImages: adrenoleukodystrophy presenting as raised intracranial pressure.
- Schizophreniform psychosis at onset of adrenoleukodystrophy.
- [A novel missense mutation resulting in X-linked adrenoleukodystrophy in female heterozygotes of a Chinese family].
- X-Linked Adrenoleukodystrophy.
- Intra familial phenotypical variations in adrenoleukodystrophy.
- Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.
- Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy.
- Importance of family history in patients with adrenoleukodystrophy.
- Very long-chain fatty acid accumulation causes lipotoxic response via 5-lipoxygenase in cerebral adrenoleukodystrophy.
- The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.
- A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report.
- Lovastatin in X-linked adrenoleukodystrophy.
- Linking mutated primary structure of adrenoleukodystrophy protein with X-linked adrenoleukodystrophy.
- [Gene therapy in the adrenoleukodystrophy].
- Picture of the month: adrenoleukodystrophy and adrenomyeloneuropathy.
- Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation.
- Optic nerve atrophy in adrenoleukodystrophy detectable by optic coherence tomography.
- Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy.
- Fast diffusion of very long chain saturated fatty acids across a bilayer membrane and their rapid extraction by cyclodextrins: implications for adrenoleukodystrophy.
- Novel human pathological mutations. Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.
- Novel human pathological mutations. Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.
- Insulin-like growth factor-1 and neurotrophin-3 gene therapy prevents motor decline in an X-linked adrenoleukodystrophy mouse model.
- Manifestation of neurofibromatosis 1 in a patient with X-linked adrenoleukodystrophy.
- Pre-symptomatic molecular diagnosis of X-linked adrenoleukodystrophy in Chinese families.
- [Primary adrenal insufficiency as the form of onset of adrenoleukodystrophy in a 4-year-old boy].
- Leukoencephalopathy in adults: is it adrenoleukodystrophy? A case report and molecular analysis.
- Post-transplant EBV-related lymphoproliferative disorder complicating umbilical cord blood transplantation in patients of adrenoleukodystrophy.
- Early neuropsychological signs of childhood adrenoleukodystrophy (ALD).
- Successful cord blood transplantation using a reduced-intensity conditioning regimen for advanced childhood-onset cerebral adrenoleukodystrophy.
- Graves' orbitopathy in a patient with adrenoleukodystrophy after bone marrow transplantation.
- Perioperative management of an adult patient with childhood cerebral X-linked adrenoleukodystrophy.
- Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.
- Three novel variants in X-linked adrenoleukodystrophy.
- Induction of the adrenoleukodystrophy-related gene (ABCD2) by thyromimetics.
- Early signs of visual perception and evoked potentials in radiologically asymptomatic boys with X-linked adrenoleukodystrophy.
- X-linked adrenoleukodystrophy: clinical course and minimal incidence in South Brazil.
- A 7-year-old boy with behavioral problems. X-linked adrenoleukodystrophy.
- Oxidative imbalance in nonstimulated X-adrenoleukodystrophy-derived lymphoblasts.
- Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia.
- Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy.
- Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy.
- Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.
- Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.
- Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.
- X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype.
- Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy.
- Successful allogeneic unrelated bone marrow transplantation using reduced-intensity conditioning for the treatment of X-linked adrenoleukodystrophy in a one-yr-old boy.
- De novo ABCD1 gene mutation in an Indian patient with adrenoleukodystrophy.
- Therapy of X-linked adrenoleukodystrophy.
- Silencing of Abcd1 and Abcd2 genes sensitizes astrocytes for inflammation: implication for X-adrenoleukodystrophy.
- Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy.
- [Evaluation of preclinical onset in patients with the childhood form of cerebral adrenoleukodystrophy--usefulness of visual cognitive function and evoked potential tests].
- Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?
- Plasmalogen deficiency in cerebral adrenoleukodystrophy and its modulation by lovastatin.
- [From gene to disease; X-linked adrenoleukodystrophy].
- A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes.
- Parents of childhood X-linked adrenoleukodystrophy: high risk for depression and neurosis.
- Pregnancy outcome after preimplantation genetic diagnosis in an affected couple with X-linked adrenoleukodystrophy.
- [X- linked adrenoleukodystrophy: misdiagnosed disease in children with idiopathic Addison's disease].
- [Prenatal molecular diagnosis of four fetuses at high risk for X-linked adrenoleukodystrophy].
- Predictive factors for vision loss after hematopoietic cell transplant for X-linked adrenoleukodystrophy.
- Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture.
- Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy.
- Rapid exacerbation in an elderly case of adult-onset X-linked adrenoleukodystrophy with cerebral corticospinal tract involvement.
- Adrenoleukodystrophy--a new mutation identified.
- Haematopoietic stem-cell transplant for adult cerebral adrenoleukodystrophy.
- Hematopoietic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy.
- Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy.
- Neonatal adrenoleukodystrophy presenting with seizure at birth: a case report and review of the literature.
- A note on X linked adrenoleukodystrophy (Addison-Schilder syndrome).
- Selective tract abnormality in adrenoleukodystrophy: Uncommon MRI finding.
- Newborn screening for adrenoleukodystrophy: implications for therapy.
- Hexacosanoic and docosanoic acids plasma levels in patients with cerebral childhood and asymptomatic X-linked adrenoleukodystrophy: Lorenzo's oil effect.
- [Very long chain fatty acids in the pathogenesis, prenatal and postnatal diagnosis of X-linked adrenoleukodystrophy].
- Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screening.
- Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X-linked adrenoleukodystrophy.
- Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy.
- "Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy.
- Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag deficiency.
- Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: implications for X-linked adrenoleukodystrophy.
- [Lovastatin induction of the redundant gene: implications for therapy of X-linked adrenoleukodystrophy].
- Serum S100B levels in X-linked adrenoleukodystrophy and Gaucher disease.
- Dehydroepiandrosterone up-regulates the Adrenoleukodystrophy-related gene (ABCD2) independently of PPARalpha in rodents.
- Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene.
- Visual function of a patient with advanced adrenoleukodystrophy: comparison of luminance and color contrast sensitivities.
- Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study.
- Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3).
- [Adrenoleukodystrophy: molecular pathogenesis and development of therapeutic agents].
- Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy.
- Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.
- [X-linked adrenoleukodystrophy].
- Outcomes of unrelated umbilical cord blood transplantation for X-linked adrenoleukodystrophy.
- Diagnosis of X-linked adrenoleukodystrophy in blood leukocytes.
- [Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy].
- Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy.
- New insights about hematopoietic stem cell transplantation in adrenoleukodystrophy.
- Preimplantation genetic diagnosis of X-linked adrenoleukodystrophy with gender determination using multiple displacement amplification.
- [Hematopoietic cell transplantation in X-linked adrenoleukodystrophy].
- [Neurological internal medicine in the EBN era--recent progress in treatment of adrenoleukodystrophy].
- Phenotypes of female adrenoleukodystrophy.
- Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy.
- X-linked adrenoleukodystrophy.
- The X-linked adrenoleukodystrophy (X-ALD) and oxidative stress.
- N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy.
- [Prenatal diagnosis of X-linked adrenoleukodystrophy].
- Virchow-Robin spaces on magnetic resonance images of children with adrenoleukodystrophy.
- Magnetic resonance spectroscopy changes following haemopoietic stem cell transplantation in children with cerebral adrenoleukodystrophy.
- Anton-Babinski syndrome in a child with early-stage adrenoleukodystrophy.
- Cerebral X-linked adrenoleukodystrophy: follow-up with magnetic resonance imaging.
- [Adrenoleukodystrophy: structure and function of ALDP, and intracellular behavior of mutant ALDP with naturally occurring missense mutations].
- Cerebral childhood and adolescent X-linked adrenoleukodystrophy. Clinical presentation, neurophysiological, neuroimaging and biochemical investigations.
- Immunopathogenesis of adrenoleukodystrophy: current understanding.
- X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment.
- [Avoiding the interference of ABCD1 pseudogenes in the molecular diagnosis of X-linked adrenoleukodystrophy by double amplification refractory mutation system].
- Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy.
- Asymmetric cerebral lesion pattern in X-linked adrenoleukodystrophy.
- X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.
- The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.
- [X-linked adult onset adrenoleukodystrophy. A case report].
- Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings.
- Adrenoleukodystrophy manifesting as spinocerebellar degeneration.
- Lorenzo's oil and platelet activation in adrenomyeloneuropathy and asymptomatic X-linked adrenoleukodystrophy.
- [Adrenoleukodystrophy, adrenomyeloneuropathy].
- The effect of Lorenzo's oil on oxidative stress in X-linked adrenoleukodystrophy.
- Auditory brainstem response findings and peripheral auditory sensitivity in adrenoleukodystrophy.
- Therapy of X-linked adrenoleukodystrophy.
- Omega-oxidation of very long-chain fatty acids in human liver microsomes. Implications for X-linked adrenoleukodystrophy.
- Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy.
- Anesthesia management of a child with adrenoleukodystrophy.
- The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD).
- A novel cell model to study the function of the adrenoleukodystrophy-related protein.
- Progression of the olivopontocerebellar form of adrenoleukodystrophy as shown by MRI.
- Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophy.
- Adrenoleukodystrophy: new approaches to a neurodegenerative disease.
- Prenatal molecular diagnosis of adrenoleukodystrophy.
- Treatment of X-linked childhood cerebral adrenoleukodystrophy by the use of an allogeneic stem cell transplantation with reduced intensity conditioning regimen.
- X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes.
- X-linked adrenoleukodystrophy with olivopontocerebellar atrophy.
- X-linked adrenoleukodystrophy mice demonstrate abnormalities in cholesterol metabolism.
- Long-term effect of bone marrow transplantation in adult-onset adrenoleukodystrophy.
- X-linked adrenoleukodystrophy with partial deletion of ALD due to fusion with the neighbor gene, PLXNB3.
- Signs of testicular insufficiency in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy: a retrospective study.
- ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy.
- Natural history of X-linked adrenoleukodystrophy in Japan.
- Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil.
- [Screening for carrier and prenatal diagnosis of X-linked adrenoleukodystrophy].
- X-linked adrenoleukodystrophy presenting as Addison disease.
- Childhood X-linked adrenoleukodystrophy: clinical-pathologic overview and MR imaging manifestations at initial evaluation and follow-up.
- [X-linked adrenoleukodystrophy in a female proband: clinical presentation, biological diagnosis and family consequences].
- Adrenoleukodystrophy: clinical analysis of 9 Taiwanese children.
- Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening.
- X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.
- Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator.
- Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
- Function of the PEX19-binding site of human adrenoleukodystrophy protein as targeting motif in man and yeast. PMP targeting is evolutionarily conserved.
- Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency.
- Plasma levels of adrenomedullin in patients with adrenoleukodystrophy/adrenomyeloneuropathy.
- Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients.
- Magnetic resonance spectroscopy: a new guide for the therapy of adrenoleukodystrophy.
- Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis.
- Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy.
- Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.
- Baicalein 5,6,7-trimethyl ether, a flavonoid derivative, stimulates fatty acid beta-oxidation in skin fibroblasts of X-linked adrenoleukodystrophy.
- [A case of adolescent adrenoleukodystrophy with clinical improvement after allogeneic bone marrow transplantation (allo-BMT)].
- Novel insertion 496_497insG creating a stop codon D194X in a Chinese family with X-Linked adrenoleukodystrophy.
- T-cell receptor Vbeta gene usage in CSF lymphocytes in X-linked adrenoleukodystrophy.
- Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.
- [Adrenoleukodystrophy: single voxel MR spectroscopy findings (case report)].
- X-linked adrenoleukodystrophy: role of very long-chain acyl-CoA synthetases.
- New findings on X-linked Adrenoleukodystrophy: 5alpha-reductase isoform 2 relative gene expression is modified in affected fibroblasts.
- Adrenoleukodystrophy: a trap for the physician.
- [Adrenomyeloneuropathy: a late type of adrenoleukodystrophy linked to chromosome X].
- [Abnormal findings of dichotic listening test in patients with childhood adrenoleukodystrophy].
- [Mutational analysis of three Chinese pedigrees with adrenoleukodystrophy].
- Progress in X-linked adrenoleukodystrophy.
- Evaluation of therapy of X-linked adrenoleukodystrophy.
- Voiding dysfunction in x-linked adrenoleukodystrophy: symptom score and urodynamic findings.
- An unusual case of X-linked adrenoleukodystrophy with auditory processing difficulties as the first and sole clinical manifestation.
- X-linked adrenoleukodystrophy presenting as autosomal dominant pure hereditary spastic paraparesis.
- Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.
- [X-linked adrenoleukodystrophy (ALD)].
- [X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China].
- [Clinical characteristics of X-linked adrenoleukodystrophy].
- Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy.
- [Diagnosis and misdiagnosis of adrenoleukodystrophy: a causal analysis].
- Adrenoleukodystrophy: abnormal white matter signal on MRI.
- Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials.
- Dehydroepiandrosterone induction of the Abcd2 and Abcd3 genes encoding peroxisomal ABC transporters: implications for X-linked adrenoleukodystrophy.
- Effect of dehydroepiandrosterone (DHEA) supplementation on fatty acid and hormone levels in patients with X-linked adrenoleukodystrophy.
- Evidence against the adrenoleukodystrophy-related gene acting as a modifier of X-adrenoleukodystrophy.
- Mouse models and genetic modifiers in X-linked adrenoleukodystrophy.
- Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.
- Evaluation of the therapeutic potential of PPARalpha agonists for X-linked adrenoleukodystrophy.
- Reversible posterior leukoencephalopathy syndrome in a child with cerebral X-linked adrenoleukodystrophy treated with cyclosporine after bone marrow transplantation.
- Free radical release in C6 glial cells enriched in hexacosanoic acid: implication for X-linked adrenoleukodystrophy pathogenesis.
- Quantitative proton magnetic resonance spectroscopy of children with adrenoleukodystrophy before and after hematopoietic stem cell transplantation.
- Role of leukotrienes as indicators of the inflammatory demyelinating reaction in x-linked cerebral adrenoleukodystrophy.
- Adult-onset dementia with prominent frontal lobe dysfunction in X-linked adrenoleukodystrophy with R152C mutation in ABCD1 gene.
- [Preliminary analysis of mutations in X-linked adrenoleukodystrophy gene(ABCD1) in Chinese patients].
- Targeting of the human adrenoleukodystrophy protein to the peroxisomal membrane by an internal region containing a highly conserved motif.
- Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: the importance of early testing.
- Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy.
- Biochemical effect of intravenous arginine butyrate in X-linked adrenoleukodystrophy.
- [Phenotypic evolution in adrenoleukodystrophy].
- Thyroid hormone induction of the adrenoleukodystrophy-related gene (ABCD2).
- Diffusion tensor imaging in cases of adrenoleukodystrophy: preliminary experience as a marker for early demyelination?
- A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy.
- MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy.
- Transduced CD34+ cells from adrenoleukodystrophy patients with HIV-derived vector mediate long-term engraftment of NOD/SCID mice.
- Adrenoleukodystrophy: the most frequent genetic cause of Addison's disease.
- Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy.
- Improvement of central motor conduction after bone marrow transplantation in adrenoleukodystrophy.
- [X-linked adrenoleukodystrophy--case reports of 4 patients in a family].
- [Analysis on mutation of adrenoleukodystrophy gene in exon 1 and exon 5].
- Genetic variations and humoral immune responses to myelin oligodendroglia glycoprotein in adult phenotypes of X-linked adrenoleukodystrophy.
- Adrenoleukodystrophy.
- Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.
- Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy.
- [Clinical heterogeneity of X-linked adrenoleukodystrophy ].
- Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy.
- Epidemiology of X-linked adrenoleukodystrophy in Japan.
- [Peroxisomal ABC proteins and adrenoleukodystrophy].
- Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation.
- Cholesterol regulates ABCD2 expression: implications for the therapy of X-linked adrenoleukodystrophy.
- Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience.
- Androgens and fatty acid metabolism in X-linked Adrenoleukodystrophy.
- Unrelated allogeneic bone marrow transplant in adrenoleukodystrophy using CD34+ stem cell selection.
- Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion.
- Adrenal functions in children with adrenoleukodystrophy.
- ATP binding/hydrolysis by and phosphorylation of peroxisomal ATP-binding cassette proteins PMP70 (ABCD3) and adrenoleukodystrophy protein (ABCD1).
- Mouse very long-chain acyl-CoA synthetase in X-linked adrenoleukodystrophy.
- Atypical X-linked adrenoleukodystrophy: new MRI observations with FLAIR, magnetization transfer contrast, diffusion MRI, and proton spectroscopy.
- Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
- Images in neuroscience: 2. Adrenoleukodystrophy.
- Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy.
- MRI findings in an asymptomatic boy with X-linked adrenoleukodystrophy and his symptomatic mother.
- Neuroleptic malignant syndrome during zuclopenthixol therapy in X-linked cerebral adrenoleukodystrophy.
- ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
- [Adrenoleukodystrophy mimicking multiple sclerosis].
- Evaluation of pharmacological induction of fatty acid beta-oxidation in X-linked adrenoleukodystrophy.
- [Transplant of hematopoietic stem cells in X-linked adrenoleukodystrophy].
- Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes.
- Adrenoleukodystrophy and related disorders.
- X-linked adrenoleukodystrophy. The Saudi experience.
- Serum autoantibody responses to myelin oligodendrocyte glycoprotein and myelin basic protein in X-linked adrenoleukodystrophy and multiple sclerosis.
- Gene therapy strategies for X-linked adrenoleukodystrophy.
- Diagnostic patterns of very-long-chain fatty acids in plasma of patients with X-linked adrenoleukodystrophy.
- Acute presentation of childhood adrenoleukodystrophy.
- Adult-onset adrenoleukodystrophy: a clinical and neuropsychological study.
- [Adrenoleukodystrophy].
- [Adrenal insufficiency as the only manifestation of X-linked adrenoleukodystrophy].
- Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.
- Fibrate induction of the adrenoleukodystrophy-related gene (ABCD2): promoter analysis and role of the peroxisome proliferator-activated receptor PPARalpha.
- Rat adrenoleukodystrophy-related (ALDR) gene: full-length cDNA sequence and new insight in expression.
- Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy.
- Disruption of a yeast very-long-chain acyl-CoA synthetase gene simulates the cellular phenotype of X-linked adrenoleukodystrophy.
- Very-long-chain fatty acid metabolism in adrenoleukodystrophy protein-deficient mice.
- Mutational analysis of X-linked adrenoleukodystrophy gene.
- Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening.
- T2 relaxation measurements in X-linked adrenoleukodystrophy performed using dual-echo fast fluid-attenuated inversion recovery MR imaging.
- Adrenoleukodystrophy presenting as Addison's disease in childhood.
- Intrathecal baclofen in X-linked adrenoleukodystrophy.
- Phenotype assignment in symptomatic female carriers of X-linked adrenoleukodystrophy.
- Voiding dysfunction in a patient with adolescent adrenoleukodystrophy.
- [Endocrine disease in adrenoleukodystrophy].
- The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzo's oil.
- Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy.
- Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy.
- X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients.
- Adrenoleukodystrophy associated with psychosis.
- Unilateral caudate head lesion stimulating brain tumour in X-linked adult onset adrenoleukodystrophy.
- Inducible nitric oxide synthase in the central nervous system of patients with X-adrenoleukodystrophy.
- Th 1 cytokine production by peripheral blood mononuclear cells in X-linked adrenoleukodystrophy.
- Susceptibility to oxidation of plasma low-density lipoprotein in X-linked adrenoleukodystrophy: effects of simvastatin treatment.
- [Frontal pseudo-tumoral form of adrenoleukodystrophy].
- Apoptosis in the central nervous system of cerebral adrenoleukodystrophy patients.
- Novel acyl-CoA synthetase in adrenoleukodystrophy target tissues.
- Therapeutic plasma exchange in treatment of adrenoleukodystrophy.
- Characterization of the adrenoleukodystrophy-related (ALDR, ABCD2) gene promoter: inductibility by retinoic acid and forskolin.
- Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy.
- Childhood-onset cerebral X-linked adrenoleukodystrophy.
- Myelin oligodendrocyte glycoprotein (MOG) polymorphisms and adrenoleukodystrophy.
- Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy.
- Rolipram does not normalize very long-chain fatty acid levels in adrenoleukodystrophy protein-deficient fibroblasts and mice.
- Lovastatin does not correct the accumulation of very long-chain fatty acids in tissues of adrenoleukodystrophy protein-deficient mice.
- MR spectroscopic imaging of normal-appearing white matter in adrenoleukodystrophy.
- [Carrier state of x-linked adrenoleukodystrophy].
- Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation.
- [Cerebral adrenomyeloneuropathy as a late type of adrenoleukodystrophy: case report].
- Bone marrow transplantation for the treatment of X-linked adrenoleukodystrophy.
- Proceedings of the 4th International Workshop of the Adrenoleukodystrophy International Research Group (ALD-IRG), University of York, 3 September 1998.
- X-linked adrenoleukodystrophy: first report of the Italian Study Group.
- Simvastatin does not normalize very long chain fatty acids in adrenoleukodystrophy mice.
- Adrenoleukodystrophy.
- Perturbation of protein kinase C subtype activation in X-ALD fibroblasts: possible involvement of protein kinase C in the pathogenesis of adrenoleukodystrophy.
- Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients.
- Therapy of X-linked adrenoleukodystrophy: prognosis based upon age and MRI abnormality and plans for placebo-controlled trials.
- An X-linked gene involved in androgenetic alopecia: a lesson to be learned from adrenoleukodystrophy.
- X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression.
- Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22:1)-rich triglycerides.
- [Disorders associated with alterations in single peroxisomal proteins, including X-linked adrenoleukodystrophy].
- Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p.
- Neuropsychological testing may predict early progression of asymptomatic adrenoleukodystrophy.
- Simvastatin and plasma very-long-chain fatty acids in X-linked adrenoleukodystrophy.
- [Primary adrenal cortex insufficiency and subclinical neurological changes in a young man. Primary adrenal cortex insufficiency (Addison disease) in x-chromosome linked adrenoleukodystrophy].
- Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
- Coma as an acute presentation of adrenoleukodystrophy.
- Excessive production of tumour necrosis factor alpha by peripheral blood mononuclear cells in X-linked adrenoleukodystrophy.
- Radiologically selective visual pathway involvement in adult onset cerebral adrenoleukodystrophy.
- [A case of adult cerebral X-linked adrenoleukodystrophy (X-ALD) accompanying typical hypertrophic neuropathy with marked onion-bulb formation].
- [Adrenomyeloneuropathy: a form of X-linked adrenoleukodystrophy. Report of a family].
- Selective sparing of pain pathways in a patient with adult cerebral adrenoleukodystrophy.
- [Adrenoleukodystrophy: genetics, phenotypes, pathogenesis, and treatment].
- Intraperoxisomal localization of very-long-chain fatty acyl-CoA synthetase: implication in X-adrenoleukodystrophy.
- X-linked adrenoleukodystrophy enigma: how does the ALD peroxisomal transporter mutation affect CNS glia?
- A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective.
- Cerebral inflammation in X-linked adrenoleukodystrophy.
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