Adrenoleukodystrophy

What is Adrenoleukodystrophy: X-linked genetic disease that is a peroxisomal disorder with impaired beta-oxidation of saturated Very Long Chain Fatty Acids.

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.edu/

Adrenoleukodystrophy (ALD)
http://class.fst.ohio-state.edu/

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

1. Chronic immune-mediated axonal polyneuropathy following umbilical cord blood transplant for childhood-onset cerebral adrenoleukodystrophy.
2. A Case of Adult-onset Adrenoleukodystrophy with Frontal Lobe Dysfunction: A Novel Point Mutation in the ABCD1 Gene.
3. Dietary treatment for X-linked adrenoleukodystrophy: is "Lorenzós oil" useful?
4. The effect of bone marrow transplantation on oxidative stress in X-linked adrenoleukodystrophy.
5. The Inflammatory Response in Acyl-CoA Oxidase 1 Deficiency (Pseudoneonatal Adrenoleukodystrophy).
6. Diffuse hair loss in Addison disease: a reason for X-linked adrenoleukodystrophy screening.
7. Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening.
8. X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects.
9. Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.
10. Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.
11. Failure of repeated cyclophosphamide pulse therapy in childhood cerebral X-linked adrenoleukodystrophy.
12. No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy.
13. Lentiviral hematopoietic cell gene therapy for X-linked adrenoleukodystrophy.
14. Elevated cerebral spinal fluid cytokine levels in boys with cerebral adrenoleukodystrophy correlates with MRI severity.
15. Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: A paradigm for multifactorial neurodegenerative diseases?
16. A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy.
17. Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.
18. Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.
19. CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy.
20. [X-linked adrenoleukodystrophy (X-ALD)].
21. SOD2 as a potential modifier of X-linked adrenoleukodystrophy clinical phenotypes.
22. Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy.
23. 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.
24. Effectiveness of valproate for the treatment of manic-like behavior in X-linked adrenoleukodystrophy.
25. Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreated.
26. Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy.
27. Clinical utility gene card for: adrenoleukodystrophy.
28. Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy.
29. Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy.
30. Brain fludeoxyglucose F 18 positron emission tomography hypometabolism in magnetic resonance imaging-negative x-linked adrenoleukodystrophy.
31. Diffusion-weighted Magnetic Resonance Imaging in the Early Diagnosis of Neonatal Adrenoleukodystrophy.
32. Adult-onset adrenoleukodystrophy heralded by auditory hallucinations and delusions.
33. Turning skin into brain: using patient-derived cells to model X-linked adrenoleukodystrophy.
34. Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.
35. Successful cord blood transplantation with reduced-intensity conditioning for childhood cerebral X-linked adrenoleukodystrophy at advanced and early stages.
36. Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy.
37. Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients.
38. X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
39. Identification of the occipito-pontine tract using diffusion-tensor fiber tracking in adult-onset adrenoleukodystrophy with topographic disorientation.
40. Adrenoleukodystrophy patient perspective: turning despair into a gene therapy breakthrough.
41. [Association of genetic polymorphisms in methionine metabolism genes with X-linked adrenoleukodystrophy].
42. Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report.
43. [Adrenoleukodystrophy. An inusual cause of primary adrenal insufficiency].
44. Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
45. Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
46. Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
47. [X-linked adrenoleukodystrophy or the trap of making commonplace of child's psycho-cognitive disorders].
48. New treatment of free-radical scavenger in adrenoleukodystrophy.
49. Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy.
50. Is subclinical adrenal failure in adrenoleukodystrophy/adrenomyeloneuropathy reversible?
51. Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation.
52. Pericarditis as the presenting feature of adrenoleukodystrophy.
53. X-Linked adrenoleukodystrophy in a 7-year-old boy presenting with psychiatric symptoms.
54. Molecular diagnosis of X-linked adrenoleukodystrophy: experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations.
55. Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes.
56. Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy.
57. Correlating quantitative MR imaging with histopathology in X-linked adrenoleukodystrophy.
58. Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family.
59. Postoperative adrenal crisis in an adolescent with Loeys-Dietz syndrome and undiagnosed adrenoleukodystrophy.
60. Evaluation of neuroinflammation in X-linked adrenoleukodystrophy.
61. Substrate specificity overlap and interaction between adrenoleukodystrophy protein (ALDP/ABCD1) and adrenoleukodystrophy-related protein (ALDRP/ABCD2).
62. Teaching Neuroimages: adrenoleukodystrophy presenting as raised intracranial pressure.
63. [Gene therapy of x-linked adrenoleukodystrophy using hematopoietic stem cells and a lentiviral vector].
64. Adrenoleukodystrophy.
65. A commentary on Diagnostic and follow-up system for X-linked adrenoleukodystrophy: a comprehensive model for 'treatable' genetic diseases.
66. X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.
67. ABC subfamily D proteins and very long chain fatty acid metabolism as novel targets in adrenoleukodystrophy.
68. Invariant NKT cells in adrenoleukodystrophy patients and mice.
69. Two novel multiple mutations in chinese patients with adrenoleukodystrophy.
70. Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy.
71. Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis.
72. A rapid and sensitive protocol for prenatal molecular diagnosis of X-linked adrenoleukodystrophy.
73. Unusual neuroimaging in a young boy with cerebral X-linked adrenoleukodystrophy.
74. 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.
75. Childhood cerebral X-linked adrenoleukodystrophy more than 5 years after hematopoietic cell transplantation: the first case from Serbia and southeastern Europe.
76. Two brothers with X linked adrenoleukodystrophy.
77. Hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy in X-linked adrenoleukodystrophy.
78. Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy.
79. Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis.
80. Biochemical aspects of X-linked adrenoleukodystrophy.
81. General aspects and neuropathology of X-linked adrenoleukodystrophy.
82. Schilder's disease a heterogenous group of disorders known as X-linked adrenoleukodystrophy. Foreword.
83. Anterior pattern disease in adrenoleukodystrophy.
84. Teaching NeuroImages: adrenoleukodystrophy presenting as raised intracranial pressure.
85. Schizophreniform psychosis at onset of adrenoleukodystrophy.
86. [A novel missense mutation resulting in X-linked adrenoleukodystrophy in female heterozygotes of a Chinese family].
87. X-Linked Adrenoleukodystrophy.
88. Intra familial phenotypical variations in adrenoleukodystrophy.
89. Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.
90. Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy.
91. Importance of family history in patients with adrenoleukodystrophy.
92. Very long-chain fatty acid accumulation causes lipotoxic response via 5-lipoxygenase in cerebral adrenoleukodystrophy.
93. The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.
94. A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report.
95. Lovastatin in X-linked adrenoleukodystrophy.
96. Linking mutated primary structure of adrenoleukodystrophy protein with X-linked adrenoleukodystrophy.
97. [Gene therapy in the adrenoleukodystrophy].
98. Picture of the month: adrenoleukodystrophy and adrenomyeloneuropathy.
99. Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation.
100. Optic nerve atrophy in adrenoleukodystrophy detectable by optic coherence tomography.
101. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy.
102. Fast diffusion of very long chain saturated fatty acids across a bilayer membrane and their rapid extraction by cyclodextrins: implications for adrenoleukodystrophy.
103. Novel human pathological mutations. Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.
104. Novel human pathological mutations. Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.
105. Insulin-like growth factor-1 and neurotrophin-3 gene therapy prevents motor decline in an X-linked adrenoleukodystrophy mouse model.
106. Manifestation of neurofibromatosis 1 in a patient with X-linked adrenoleukodystrophy.
107. Pre-symptomatic molecular diagnosis of X-linked adrenoleukodystrophy in Chinese families.
108. [Primary adrenal insufficiency as the form of onset of adrenoleukodystrophy in a 4-year-old boy].
109. Leukoencephalopathy in adults: is it adrenoleukodystrophy? A case report and molecular analysis.
110. Post-transplant EBV-related lymphoproliferative disorder complicating umbilical cord blood transplantation in patients of adrenoleukodystrophy.
111. Early neuropsychological signs of childhood adrenoleukodystrophy (ALD).
112. Successful cord blood transplantation using a reduced-intensity conditioning regimen for advanced childhood-onset cerebral adrenoleukodystrophy.
113. Graves' orbitopathy in a patient with adrenoleukodystrophy after bone marrow transplantation.
114. Perioperative management of an adult patient with childhood cerebral X-linked adrenoleukodystrophy.
115. Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.
116. Three novel variants in X-linked adrenoleukodystrophy.
117. Induction of the adrenoleukodystrophy-related gene (ABCD2) by thyromimetics.
118. Early signs of visual perception and evoked potentials in radiologically asymptomatic boys with X-linked adrenoleukodystrophy.
119. X-linked adrenoleukodystrophy: clinical course and minimal incidence in South Brazil.
120. A 7-year-old boy with behavioral problems. X-linked adrenoleukodystrophy.
121. Oxidative imbalance in nonstimulated X-adrenoleukodystrophy-derived lymphoblasts.
122. Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia.
123. Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy.
124. Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy.
125. Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.
126. Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.
127. Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.
128. X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype.
129. Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy.
130. Successful allogeneic unrelated bone marrow transplantation using reduced-intensity conditioning for the treatment of X-linked adrenoleukodystrophy in a one-yr-old boy.
131. De novo ABCD1 gene mutation in an Indian patient with adrenoleukodystrophy.
132. Therapy of X-linked adrenoleukodystrophy.
133. Silencing of Abcd1 and Abcd2 genes sensitizes astrocytes for inflammation: implication for X-adrenoleukodystrophy.
134. Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy.
135. [Evaluation of preclinical onset in patients with the childhood form of cerebral adrenoleukodystrophy--usefulness of visual cognitive function and evoked potential tests].
136. Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?
137. Plasmalogen deficiency in cerebral adrenoleukodystrophy and its modulation by lovastatin.
138. [From gene to disease; X-linked adrenoleukodystrophy].
139. A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes.
140. Parents of childhood X-linked adrenoleukodystrophy: high risk for depression and neurosis.
141. Pregnancy outcome after preimplantation genetic diagnosis in an affected couple with X-linked adrenoleukodystrophy.
142. [X- linked adrenoleukodystrophy: misdiagnosed disease in children with idiopathic Addison's disease].
143. [Prenatal molecular diagnosis of four fetuses at high risk for X-linked adrenoleukodystrophy].
144. Predictive factors for vision loss after hematopoietic cell transplant for X-linked adrenoleukodystrophy.
145. Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture.
146. Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy.
147. Rapid exacerbation in an elderly case of adult-onset X-linked adrenoleukodystrophy with cerebral corticospinal tract involvement.
148. Adrenoleukodystrophy--a new mutation identified.
149. Haematopoietic stem-cell transplant for adult cerebral adrenoleukodystrophy.
150. Hematopoietic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy.
151. Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy.
152. Neonatal adrenoleukodystrophy presenting with seizure at birth: a case report and review of the literature.
153. A note on X linked adrenoleukodystrophy (Addison-Schilder syndrome).
154. Selective tract abnormality in adrenoleukodystrophy: Uncommon MRI finding.
155. Newborn screening for adrenoleukodystrophy: implications for therapy.
156. Hexacosanoic and docosanoic acids plasma levels in patients with cerebral childhood and asymptomatic X-linked adrenoleukodystrophy: Lorenzo's oil effect.
157. [Very long chain fatty acids in the pathogenesis, prenatal and postnatal diagnosis of X-linked adrenoleukodystrophy].
158. Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screening.
159. Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X-linked adrenoleukodystrophy.
160. Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy.
161. "Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy.
162. Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag deficiency.
163. Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: implications for X-linked adrenoleukodystrophy.
164. [Lovastatin induction of the redundant gene: implications for therapy of X-linked adrenoleukodystrophy].
165. Serum S100B levels in X-linked adrenoleukodystrophy and Gaucher disease.
166. Dehydroepiandrosterone up-regulates the Adrenoleukodystrophy-related gene (ABCD2) independently of PPARalpha in rodents.
167. Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene.
168. Visual function of a patient with advanced adrenoleukodystrophy: comparison of luminance and color contrast sensitivities.
169. Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study.
170. Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3).
171. [Adrenoleukodystrophy: molecular pathogenesis and development of therapeutic agents].
172. Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy.
173. Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.
174. [X-linked adrenoleukodystrophy].
175. Outcomes of unrelated umbilical cord blood transplantation for X-linked adrenoleukodystrophy.
176. Diagnosis of X-linked adrenoleukodystrophy in blood leukocytes.
177. [Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy].
178. Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy.
179. New insights about hematopoietic stem cell transplantation in adrenoleukodystrophy.
180. Preimplantation genetic diagnosis of X-linked adrenoleukodystrophy with gender determination using multiple displacement amplification.
181. [Hematopoietic cell transplantation in X-linked adrenoleukodystrophy].
182. [Neurological internal medicine in the EBN era--recent progress in treatment of adrenoleukodystrophy].
183. Phenotypes of female adrenoleukodystrophy.
184. Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy.
185. X-linked adrenoleukodystrophy.
186. The X-linked adrenoleukodystrophy (X-ALD) and oxidative stress.
187. N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy.
188. [Prenatal diagnosis of X-linked adrenoleukodystrophy].
189. Virchow-Robin spaces on magnetic resonance images of children with adrenoleukodystrophy.
190. Magnetic resonance spectroscopy changes following haemopoietic stem cell transplantation in children with cerebral adrenoleukodystrophy.
191. Anton-Babinski syndrome in a child with early-stage adrenoleukodystrophy.
192. Cerebral X-linked adrenoleukodystrophy: follow-up with magnetic resonance imaging.
193. [Adrenoleukodystrophy: structure and function of ALDP, and intracellular behavior of mutant ALDP with naturally occurring missense mutations].
194. Cerebral childhood and adolescent X-linked adrenoleukodystrophy. Clinical presentation, neurophysiological, neuroimaging and biochemical investigations.
195. Immunopathogenesis of adrenoleukodystrophy: current understanding.
196. X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment.
197. [Avoiding the interference of ABCD1 pseudogenes in the molecular diagnosis of X-linked adrenoleukodystrophy by double amplification refractory mutation system].
198. Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy.
199. Asymmetric cerebral lesion pattern in X-linked adrenoleukodystrophy.
200. X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.
201. The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.
202. [X-linked adult onset adrenoleukodystrophy. A case report].
203. Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings.
204. Adrenoleukodystrophy manifesting as spinocerebellar degeneration.
205. Lorenzo's oil and platelet activation in adrenomyeloneuropathy and asymptomatic X-linked adrenoleukodystrophy.
206. [Adrenoleukodystrophy, adrenomyeloneuropathy].
207. The effect of Lorenzo's oil on oxidative stress in X-linked adrenoleukodystrophy.
208. Auditory brainstem response findings and peripheral auditory sensitivity in adrenoleukodystrophy.
209. Therapy of X-linked adrenoleukodystrophy.
210. Omega-oxidation of very long-chain fatty acids in human liver microsomes. Implications for X-linked adrenoleukodystrophy.
211. Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy.
212. Anesthesia management of a child with adrenoleukodystrophy.
213. The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD).
214. A novel cell model to study the function of the adrenoleukodystrophy-related protein.
215. Progression of the olivopontocerebellar form of adrenoleukodystrophy as shown by MRI.
216. Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophy.
217. Adrenoleukodystrophy: new approaches to a neurodegenerative disease.
218. Prenatal molecular diagnosis of adrenoleukodystrophy.
219. Treatment of X-linked childhood cerebral adrenoleukodystrophy by the use of an allogeneic stem cell transplantation with reduced intensity conditioning regimen.
220. X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes.
221. X-linked adrenoleukodystrophy with olivopontocerebellar atrophy.
222. X-linked adrenoleukodystrophy mice demonstrate abnormalities in cholesterol metabolism.
223. Long-term effect of bone marrow transplantation in adult-onset adrenoleukodystrophy.
224. X-linked adrenoleukodystrophy with partial deletion of ALD due to fusion with the neighbor gene, PLXNB3.
225. Signs of testicular insufficiency in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy: a retrospective study.
226. ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy.
227. Natural history of X-linked adrenoleukodystrophy in Japan.
228. Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil.
229. [Screening for carrier and prenatal diagnosis of X-linked adrenoleukodystrophy].
230. X-linked adrenoleukodystrophy presenting as Addison disease.
231. Childhood X-linked adrenoleukodystrophy: clinical-pathologic overview and MR imaging manifestations at initial evaluation and follow-up.
232. [X-linked adrenoleukodystrophy in a female proband: clinical presentation, biological diagnosis and family consequences].
233. Adrenoleukodystrophy: clinical analysis of 9 Taiwanese children.
234. Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening.
235. 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.
236. Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator.
237. Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
238. Function of the PEX19-binding site of human adrenoleukodystrophy protein as targeting motif in man and yeast. PMP targeting is evolutionarily conserved.
239. Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency.
240. Plasma levels of adrenomedullin in patients with adrenoleukodystrophy/adrenomyeloneuropathy.
241. Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients.
242. Magnetic resonance spectroscopy: a new guide for the therapy of adrenoleukodystrophy.
243. Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis.
244. Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy.
245. Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.
246. Baicalein 5,6,7-trimethyl ether, a flavonoid derivative, stimulates fatty acid beta-oxidation in skin fibroblasts of X-linked adrenoleukodystrophy.
247. [A case of adolescent adrenoleukodystrophy with clinical improvement after allogeneic bone marrow transplantation (allo-BMT)].
248. Novel insertion 496_497insG creating a stop codon D194X in a Chinese family with X-Linked adrenoleukodystrophy.
249. T-cell receptor Vbeta gene usage in CSF lymphocytes in X-linked adrenoleukodystrophy.
250. Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.
251. [Adrenoleukodystrophy: single voxel MR spectroscopy findings (case report)].
252. X-linked adrenoleukodystrophy: role of very long-chain acyl-CoA synthetases.
253. New findings on X-linked Adrenoleukodystrophy: 5alpha-reductase isoform 2 relative gene expression is modified in affected fibroblasts.
254. Adrenoleukodystrophy: a trap for the physician.
255. [Adrenomyeloneuropathy: a late type of adrenoleukodystrophy linked to chromosome X].
256. [Abnormal findings of dichotic listening test in patients with childhood adrenoleukodystrophy].
257. [Mutational analysis of three Chinese pedigrees with adrenoleukodystrophy].
258. Progress in X-linked adrenoleukodystrophy.
259. Evaluation of therapy of X-linked adrenoleukodystrophy.
260. Voiding dysfunction in x-linked adrenoleukodystrophy: symptom score and urodynamic findings.
261. An unusual case of X-linked adrenoleukodystrophy with auditory processing difficulties as the first and sole clinical manifestation.
262. X-linked adrenoleukodystrophy presenting as autosomal dominant pure hereditary spastic paraparesis.
263. Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.
264. [X-linked adrenoleukodystrophy (ALD)].
265. [X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China].
266. [Clinical characteristics of X-linked adrenoleukodystrophy].
267. Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy.
268. [Diagnosis and misdiagnosis of adrenoleukodystrophy: a causal analysis].
269. Adrenoleukodystrophy: abnormal white matter signal on MRI.
270. Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials.
271. Dehydroepiandrosterone induction of the Abcd2 and Abcd3 genes encoding peroxisomal ABC transporters: implications for X-linked adrenoleukodystrophy.
272. Effect of dehydroepiandrosterone (DHEA) supplementation on fatty acid and hormone levels in patients with X-linked adrenoleukodystrophy.
273. Evidence against the adrenoleukodystrophy-related gene acting as a modifier of X-adrenoleukodystrophy.
274. Mouse models and genetic modifiers in X-linked adrenoleukodystrophy.
275. 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.
276. Evaluation of the therapeutic potential of PPARalpha agonists for X-linked adrenoleukodystrophy.
277. Reversible posterior leukoencephalopathy syndrome in a child with cerebral X-linked adrenoleukodystrophy treated with cyclosporine after bone marrow transplantation.
278. Free radical release in C6 glial cells enriched in hexacosanoic acid: implication for X-linked adrenoleukodystrophy pathogenesis.
279. Quantitative proton magnetic resonance spectroscopy of children with adrenoleukodystrophy before and after hematopoietic stem cell transplantation.
280. Role of leukotrienes as indicators of the inflammatory demyelinating reaction in x-linked cerebral adrenoleukodystrophy.
281. Adult-onset dementia with prominent frontal lobe dysfunction in X-linked adrenoleukodystrophy with R152C mutation in ABCD1 gene.
282. [Preliminary analysis of mutations in X-linked adrenoleukodystrophy gene(ABCD1) in Chinese patients].
283. Targeting of the human adrenoleukodystrophy protein to the peroxisomal membrane by an internal region containing a highly conserved motif.
284. Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: the importance of early testing.
285. Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy.
286. Biochemical effect of intravenous arginine butyrate in X-linked adrenoleukodystrophy.
287. [Phenotypic evolution in adrenoleukodystrophy].
288. Thyroid hormone induction of the adrenoleukodystrophy-related gene (ABCD2).
289. Diffusion tensor imaging in cases of adrenoleukodystrophy: preliminary experience as a marker for early demyelination?
290. A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy.
291. MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy.
292. Transduced CD34+ cells from adrenoleukodystrophy patients with HIV-derived vector mediate long-term engraftment of NOD/SCID mice.
293. Adrenoleukodystrophy: the most frequent genetic cause of Addison's disease.
294. Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy.
295. Improvement of central motor conduction after bone marrow transplantation in adrenoleukodystrophy.
296. [X-linked adrenoleukodystrophy--case reports of 4 patients in a family].
297. [Analysis on mutation of adrenoleukodystrophy gene in exon 1 and exon 5].
298. Genetic variations and humoral immune responses to myelin oligodendroglia glycoprotein in adult phenotypes of X-linked adrenoleukodystrophy.
299. Adrenoleukodystrophy.
300. Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.
301. Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy.
302. [Clinical heterogeneity of X-linked adrenoleukodystrophy ].
303. Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy.
304. Epidemiology of X-linked adrenoleukodystrophy in Japan.
305. [Peroxisomal ABC proteins and adrenoleukodystrophy].
306. Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation.
307. Cholesterol regulates ABCD2 expression: implications for the therapy of X-linked adrenoleukodystrophy.
308. Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience.
309. Androgens and fatty acid metabolism in X-linked Adrenoleukodystrophy.
310. Unrelated allogeneic bone marrow transplant in adrenoleukodystrophy using CD34+ stem cell selection.
311. Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion.
312. Adrenal functions in children with adrenoleukodystrophy.
313. ATP binding/hydrolysis by and phosphorylation of peroxisomal ATP-binding cassette proteins PMP70 (ABCD3) and adrenoleukodystrophy protein (ABCD1).
314. Mouse very long-chain acyl-CoA synthetase in X-linked adrenoleukodystrophy.
315. Atypical X-linked adrenoleukodystrophy: new MRI observations with FLAIR, magnetization transfer contrast, diffusion MRI, and proton spectroscopy.
316. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
317. Images in neuroscience: 2. Adrenoleukodystrophy.
318. Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy.
319. MRI findings in an asymptomatic boy with X-linked adrenoleukodystrophy and his symptomatic mother.
320. Neuroleptic malignant syndrome during zuclopenthixol therapy in X-linked cerebral adrenoleukodystrophy.
321. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
322. [Adrenoleukodystrophy mimicking multiple sclerosis].
323. Evaluation of pharmacological induction of fatty acid beta-oxidation in X-linked adrenoleukodystrophy.
324. [Transplant of hematopoietic stem cells in X-linked adrenoleukodystrophy].
325. Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes.
326. Adrenoleukodystrophy and related disorders.
327. X-linked adrenoleukodystrophy. The Saudi experience.
328. Serum autoantibody responses to myelin oligodendrocyte glycoprotein and myelin basic protein in X-linked adrenoleukodystrophy and multiple sclerosis.
329. Gene therapy strategies for X-linked adrenoleukodystrophy.
330. Diagnostic patterns of very-long-chain fatty acids in plasma of patients with X-linked adrenoleukodystrophy.
331. Acute presentation of childhood adrenoleukodystrophy.
332. Adult-onset adrenoleukodystrophy: a clinical and neuropsychological study.
333. [Adrenoleukodystrophy].
334. [Adrenal insufficiency as the only manifestation of X-linked adrenoleukodystrophy].
335. Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.
336. Fibrate induction of the adrenoleukodystrophy-related gene (ABCD2): promoter analysis and role of the peroxisome proliferator-activated receptor PPARalpha.
337. Rat adrenoleukodystrophy-related (ALDR) gene: full-length cDNA sequence and new insight in expression.
338. Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy.
339. Disruption of a yeast very-long-chain acyl-CoA synthetase gene simulates the cellular phenotype of X-linked adrenoleukodystrophy.
340. Very-long-chain fatty acid metabolism in adrenoleukodystrophy protein-deficient mice.
341. Mutational analysis of X-linked adrenoleukodystrophy gene.
342. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening.
343. T2 relaxation measurements in X-linked adrenoleukodystrophy performed using dual-echo fast fluid-attenuated inversion recovery MR imaging.
344. Adrenoleukodystrophy presenting as Addison's disease in childhood.
345. Intrathecal baclofen in X-linked adrenoleukodystrophy.
346. Phenotype assignment in symptomatic female carriers of X-linked adrenoleukodystrophy.
347. Voiding dysfunction in a patient with adolescent adrenoleukodystrophy.
348. [Endocrine disease in adrenoleukodystrophy].
349. The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzo's oil.
350. Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy.
351. Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy.
352. X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients.
353. Adrenoleukodystrophy associated with psychosis.
354. Unilateral caudate head lesion stimulating brain tumour in X-linked adult onset adrenoleukodystrophy.
355. Inducible nitric oxide synthase in the central nervous system of patients with X-adrenoleukodystrophy.
356. Th 1 cytokine production by peripheral blood mononuclear cells in X-linked adrenoleukodystrophy.
357. Susceptibility to oxidation of plasma low-density lipoprotein in X-linked adrenoleukodystrophy: effects of simvastatin treatment.
358. [Frontal pseudo-tumoral form of adrenoleukodystrophy].
359. Apoptosis in the central nervous system of cerebral adrenoleukodystrophy patients.
360. Novel acyl-CoA synthetase in adrenoleukodystrophy target tissues.
361. Therapeutic plasma exchange in treatment of adrenoleukodystrophy.
362. Characterization of the adrenoleukodystrophy-related (ALDR, ABCD2) gene promoter: inductibility by retinoic acid and forskolin.
363. Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy.
364. Childhood-onset cerebral X-linked adrenoleukodystrophy.
365. Myelin oligodendrocyte glycoprotein (MOG) polymorphisms and adrenoleukodystrophy.
366. Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy.
367. Rolipram does not normalize very long-chain fatty acid levels in adrenoleukodystrophy protein-deficient fibroblasts and mice.
368. Lovastatin does not correct the accumulation of very long-chain fatty acids in tissues of adrenoleukodystrophy protein-deficient mice.
369. MR spectroscopic imaging of normal-appearing white matter in adrenoleukodystrophy.
370. [Carrier state of x-linked adrenoleukodystrophy].
371. Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation.
372. [Cerebral adrenomyeloneuropathy as a late type of adrenoleukodystrophy: case report].
373. Bone marrow transplantation for the treatment of X-linked adrenoleukodystrophy.
374. Proceedings of the 4th International Workshop of the Adrenoleukodystrophy International Research Group (ALD-IRG), University of York, 3 September 1998.
375. X-linked adrenoleukodystrophy: first report of the Italian Study Group.
376. Simvastatin does not normalize very long chain fatty acids in adrenoleukodystrophy mice.
377. Adrenoleukodystrophy.
378. Perturbation of protein kinase C subtype activation in X-ALD fibroblasts: possible involvement of protein kinase C in the pathogenesis of adrenoleukodystrophy.
379. Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients.
380. Therapy of X-linked adrenoleukodystrophy: prognosis based upon age and MRI abnormality and plans for placebo-controlled trials.
381. An X-linked gene involved in androgenetic alopecia: a lesson to be learned from adrenoleukodystrophy.
382. X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression.
383. Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22:1)-rich triglycerides.
384. [Disorders associated with alterations in single peroxisomal proteins, including X-linked adrenoleukodystrophy].
385. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p.
386. Neuropsychological testing may predict early progression of asymptomatic adrenoleukodystrophy.
387. Simvastatin and plasma very-long-chain fatty acids in X-linked adrenoleukodystrophy.
388. [Primary adrenal cortex insufficiency and subclinical neurological changes in a young man. Primary adrenal cortex insufficiency (Addison disease) in x-chromosome linked adrenoleukodystrophy].
389. Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
390. Coma as an acute presentation of adrenoleukodystrophy.
391. Excessive production of tumour necrosis factor alpha by peripheral blood mononuclear cells in X-linked adrenoleukodystrophy.
392. Radiologically selective visual pathway involvement in adult onset cerebral adrenoleukodystrophy.
393. [A case of adult cerebral X-linked adrenoleukodystrophy (X-ALD) accompanying typical hypertrophic neuropathy with marked onion-bulb formation].
394. [Adrenomyeloneuropathy: a form of X-linked adrenoleukodystrophy. Report of a family].
395. Selective sparing of pain pathways in a patient with adult cerebral adrenoleukodystrophy.
396. [Adrenoleukodystrophy: genetics, phenotypes, pathogenesis, and treatment].
397. Intraperoxisomal localization of very-long-chain fatty acyl-CoA synthetase: implication in X-adrenoleukodystrophy.
398. X-linked adrenoleukodystrophy enigma: how does the ALD peroxisomal transporter mutation affect CNS glia?
399. 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.
400. Cerebral inflammation in X-linked adrenoleukodystrophy.