Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Adrenoleukodystrophy> ?p ?o }
- Adrenoleukodystrophy abstract "Adrenoleukodystrophy (/-ˌlu-koʊ-ˈdis-trə-fiː/) (also known as X-linked adrenoleukodystrophy, ALD, X-ALD, adrenomyeloneuropathy, AMN, Siemerling–Creutzfeldt disease or bronze Schilder disease) is a disorder of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex and the Leydig cells in the testes. Clinically, ALD is a heterogenous disorder, presenting with several distinct phenotypes, and no clear pattern of genotype-phenotype correlation. As an X-linked disorder, ALD presents most commonly in males, however approximately 50% of heterozygote females show some symptoms later in life. Approximately two-thirds of ALD patients will present with the childhood cerebral form of the disease, which is the most severe form. It is characterized by normal development in early childhood, followed by rapid degeneration to a vegetative state. The other forms of ALD vary in terms of onset and clinical severity, ranging from adrenal insufficiency to progressive paraparesis in early adulthood (this form of the disease is typically known as adrenomyeloneuropathy).ALD is caused by mutations in ABCD1, a gene located on the X chromosome that codes for ALD, a peroxisomal membrane transporter protein. The exact mechanism of the pathogenesis of the various forms of ALD is not known. Biochemically, individuals with ALD show very high levels of unbranched, saturated, very long chain fatty acids, particularly cerotic acid (26:0). The level of cerotic acid in plasma does not correlate with clinical presentation. Treatment options for ALD are limited. Dietary treatment is with Lorenzo's oil. For the childhood cerebral form, stem cell transplant and gene therapy are options if the disease is detected early in the clinical course. Adrenal insufficiency in ALD patients can be successfully treated. ALD is the most common peroxisomal inborn error of metabolism, with an incidence estimated between 1:18,000 and 1:50,000. It does not have a significantly higher incidence in any specific ethnic groups.".
- Adrenoleukodystrophy icd10 "E71.3".
- Adrenoleukodystrophy icd9 ",".
- Adrenoleukodystrophy icd9 "277.86".
- Adrenoleukodystrophy icd9 "330.0".
- Adrenoleukodystrophy meshId "D000326".
- Adrenoleukodystrophy omim "300100".
- Adrenoleukodystrophy thumbnail Adrenoleukodystrophy.jpg?width=300.
- Adrenoleukodystrophy wikiPageExternalLink &lang=en&force=1.
- Adrenoleukodystrophy wikiPageExternalLink www.marchofdimes.org.
- Adrenoleukodystrophy wikiPageExternalLink www.ulf.org.
- Adrenoleukodystrophy wikiPageExternalLink top.
- Adrenoleukodystrophy wikiPageExternalLink www.aldlife.org.
- Adrenoleukodystrophy wikiPageExternalLink www.fightald.org.
- Adrenoleukodystrophy wikiPageExternalLink bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.226.
- Adrenoleukodystrophy wikiPageID "52952".
- Adrenoleukodystrophy wikiPageLength "24301".
- Adrenoleukodystrophy wikiPageOutDegree "70".
- Adrenoleukodystrophy wikiPageRevisionID "705246329".
- Adrenoleukodystrophy wikiPageWikiLink ABCD1.
- Adrenoleukodystrophy wikiPageWikiLink Addisons_disease.
- Adrenoleukodystrophy wikiPageWikiLink Adrenal_cortex.
- Adrenoleukodystrophy wikiPageWikiLink Attention_deficit_hyperactivity_disorder.
- Adrenoleukodystrophy wikiPageWikiLink Brainstem.
- Adrenoleukodystrophy wikiPageWikiLink Category:Adrenal_gland_disorders.
- Adrenoleukodystrophy wikiPageWikiLink Category:Demyelinating_diseases_of_CNS.
- Adrenoleukodystrophy wikiPageWikiLink Category:Fatty-acid_metabolism_disorders.
- Adrenoleukodystrophy wikiPageWikiLink Category:Leukodystrophies.
- Adrenoleukodystrophy wikiPageWikiLink Category:Membrane_transport_protein_disorders.
- Adrenoleukodystrophy wikiPageWikiLink Category:Neurological_disorders_in_children.
- Adrenoleukodystrophy wikiPageWikiLink Category:Peroxisomal_disorders.
- Adrenoleukodystrophy wikiPageWikiLink Category:Rare_diseases.
- Adrenoleukodystrophy wikiPageWikiLink Category:Skin_conditions_resulting_from_errors_in_metabolism.
- Adrenoleukodystrophy wikiPageWikiLink Category:X-linked_recessive_disorders.
- Adrenoleukodystrophy wikiPageWikiLink Central_nervous_system.
- Adrenoleukodystrophy wikiPageWikiLink Cerotic_acid.
- Adrenoleukodystrophy wikiPageWikiLink Dementia.
- Adrenoleukodystrophy wikiPageWikiLink Demyelinating_disease.
- Adrenoleukodystrophy wikiPageWikiLink Frameshift_mutation.
- Adrenoleukodystrophy wikiPageWikiLink France.
- Adrenoleukodystrophy wikiPageWikiLink Gas_chromatography–mass_spectrometry.
- Adrenoleukodystrophy wikiPageWikiLink Gene_therapy.
- Adrenoleukodystrophy wikiPageWikiLink Genotype.
- Adrenoleukodystrophy wikiPageWikiLink Germline_mosaicism.
- Adrenoleukodystrophy wikiPageWikiLink Hematopoietic_stem_cell_transplantation.
- Adrenoleukodystrophy wikiPageWikiLink Human_leukocyte_antigen.
- Adrenoleukodystrophy wikiPageWikiLink Leydig_cell.
- Adrenoleukodystrophy wikiPageWikiLink Lorenzo_Odone.
- Adrenoleukodystrophy wikiPageWikiLink Lorenzos_oil.
- Adrenoleukodystrophy wikiPageWikiLink Medical_genetics.
- Adrenoleukodystrophy wikiPageWikiLink Missense_mutation.
- Adrenoleukodystrophy wikiPageWikiLink Myelin.
- Adrenoleukodystrophy wikiPageWikiLink National_Center_for_Biotechnology_Information.
- Adrenoleukodystrophy wikiPageWikiLink Neonatal_adrenoleukodystrophy.
- Adrenoleukodystrophy wikiPageWikiLink Newborn_screening.
- Adrenoleukodystrophy wikiPageWikiLink Paraplegia.
- Adrenoleukodystrophy wikiPageWikiLink Peripheral_neuropathy.
- Adrenoleukodystrophy wikiPageWikiLink Peroxisome.
- Adrenoleukodystrophy wikiPageWikiLink Persistent_vegetative_state.
- Adrenoleukodystrophy wikiPageWikiLink Phenotype.
- Adrenoleukodystrophy wikiPageWikiLink Testicle.
- Adrenoleukodystrophy wikiPageWikiLink Triolein.
- Adrenoleukodystrophy wikiPageWikiLink Uniformed_Services_University_of_the_Health_Sciences.
- Adrenoleukodystrophy wikiPageWikiLink Vectors_in_gene_therapy.
- Adrenoleukodystrophy wikiPageWikiLink Very_long_chain_fatty_acid.
- Adrenoleukodystrophy wikiPageWikiLink White_matter.
- Adrenoleukodystrophy wikiPageWikiLink Wild_type.
- Adrenoleukodystrophy wikiPageWikiLink X-linked_recessive_inheritance.
- Adrenoleukodystrophy wikiPageWikiLink X_chromosome.
- Adrenoleukodystrophy wikiPageWikiLink Zygosity.
- Adrenoleukodystrophy wikiPageWikiLink File:ABCD1-gene.svg.
- Adrenoleukodystrophy wikiPageWikiLinkText "ALD".
- Adrenoleukodystrophy wikiPageWikiLinkText "Addison-Schilder syndrome".
- Adrenoleukodystrophy wikiPageWikiLinkText "Adrenoleukodystrophy (ALD)".
- Adrenoleukodystrophy wikiPageWikiLinkText "Adrenoleukodystrophy".
- Adrenoleukodystrophy wikiPageWikiLinkText "X-ALD".
- Adrenoleukodystrophy wikiPageWikiLinkText "X-linked adrenoleukodystrophy (X-ALD)".
- Adrenoleukodystrophy wikiPageWikiLinkText "adrenal leukodystrophy".
- Adrenoleukodystrophy wikiPageWikiLinkText "adrenoleukodystrophy (ALD)".
- Adrenoleukodystrophy wikiPageWikiLinkText "adrenoleukodystrophy".
- Adrenoleukodystrophy wikiPageWikiLinkText "cerebral scleroses".
- Adrenoleukodystrophy caption "White matter, with reduced volume and increased signal intensity. The anterior white matter is spared. Features are consistent with X-linked adrenoleukodystrophy.".
- Adrenoleukodystrophy diseasesdb "292".
- Adrenoleukodystrophy field Medical_genetics.
- Adrenoleukodystrophy genereviewsname "X-Linked Adrenoleukodystrophy".
- Adrenoleukodystrophy genereviewsnbk "NBK1315".
- Adrenoleukodystrophy icd ",".
- Adrenoleukodystrophy icd "277.86".
- Adrenoleukodystrophy icd "330".
- Adrenoleukodystrophy icd "E71.3".
- Adrenoleukodystrophy medlineplus "1182".
- Adrenoleukodystrophy meshid "D000326".
- Adrenoleukodystrophy name "Adrenoleukodystrophy".
- Adrenoleukodystrophy omim "300100".
- Adrenoleukodystrophy wikiPageUsesTemplate Template:ABC_transporter_disorders.
- Adrenoleukodystrophy wikiPageUsesTemplate Template:CNS_diseases_of_the_nervous_system.
- Adrenoleukodystrophy wikiPageUsesTemplate Template:DMOZ.
- Adrenoleukodystrophy wikiPageUsesTemplate Template:Fatty-acid_metabolism_disorders.
- Adrenoleukodystrophy wikiPageUsesTemplate Template:Hatnote.
- Adrenoleukodystrophy wikiPageUsesTemplate Template:IPAc-en.