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- Adrenoleukodystrophy abstract "Adrenoleukodystrophy (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 one-third 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 peroxisomal membrane transporter protein, located on the X chromosome. 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 1:20,000 and 1:50,000. It does not have a significantly higher incidence in any specific ethnic groups.".
- Adrenoleukodystrophy diseasesdb "292".
- Adrenoleukodystrophy icd10 "E71.3".
- Adrenoleukodystrophy icd9 "330.0, 277.86".
- Adrenoleukodystrophy medlineplus "001182".
- Adrenoleukodystrophy meshId "D000326".
- Adrenoleukodystrophy omim "300100".
- Adrenoleukodystrophy thumbnail Adrenoleukodystrophy.jpg?width=300.
- Adrenoleukodystrophy wikiPageExternalLink top.
- Adrenoleukodystrophy wikiPageExternalLink www.aldlife.org.
- Adrenoleukodystrophy wikiPageExternalLink &lang=en&force=1.
- Adrenoleukodystrophy wikiPageExternalLink www.marchofdimes.com.
- Adrenoleukodystrophy wikiPageExternalLink bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.226.
- Adrenoleukodystrophy wikiPageExternalLink www.ulf.org.
- Adrenoleukodystrophy wikiPageID "52952".
- Adrenoleukodystrophy wikiPageRevisionID "606785148".
- 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 genereviewsname "X-Linked Adrenoleukodystrophy".
- Adrenoleukodystrophy genereviewsnbk "NBK1315".
- Adrenoleukodystrophy hasPhotoCollection Adrenoleukodystrophy.
- Adrenoleukodystrophy icd "330".
- Adrenoleukodystrophy icd "E71.3".
- Adrenoleukodystrophy medlineplus "1182".
- Adrenoleukodystrophy meshid "D000326".
- Adrenoleukodystrophy name "Adrenoleukodystrophy".
- Adrenoleukodystrophy omim "300100".
- Adrenoleukodystrophy wordnet_type synset-disease-noun-1.
- Adrenoleukodystrophy subject Category:Adrenal_gland_disorders.
- Adrenoleukodystrophy subject Category:Demyelinating_diseases_of_CNS.
- Adrenoleukodystrophy subject Category:Fatty-acid_metabolism_disorders.
- Adrenoleukodystrophy subject Category:Leukodystrophies.
- Adrenoleukodystrophy subject Category:Membrane_transport_protein_disorders.
- Adrenoleukodystrophy subject Category:Neurological_disorders_in_children.
- Adrenoleukodystrophy subject Category:Peroxisomal_disorders.
- Adrenoleukodystrophy subject Category:Rare_diseases.
- Adrenoleukodystrophy subject Category:Skin_conditions_resulting_from_errors_in_metabolism.
- Adrenoleukodystrophy subject Category:X-linked_recessive_disorders.
- Adrenoleukodystrophy type Abstraction100002137.
- Adrenoleukodystrophy type AdrenalGlandDisorders.
- Adrenoleukodystrophy type Attribute100024264.
- Adrenoleukodystrophy type Condition113920835.
- Adrenoleukodystrophy type Disease114070360.
- Adrenoleukodystrophy type Disorder114052403.
- Adrenoleukodystrophy type Fatty-acidMetabolismDisorders.
- Adrenoleukodystrophy type IllHealth114052046.
- Adrenoleukodystrophy type Illness114061805.
- Adrenoleukodystrophy type MembraneTransportProteinDisorders.
- Adrenoleukodystrophy type NervousDisorder114084880.
- Adrenoleukodystrophy type NeurologicalDisordersInChildren.
- Adrenoleukodystrophy type PathologicalState114051917.
- Adrenoleukodystrophy type PeroxisomalDisorders.
- Adrenoleukodystrophy type PhysicalCondition114034177.
- Adrenoleukodystrophy type SkinConditionsResultingFromErrorsInMetabolism.
- Adrenoleukodystrophy type State100024720.
- Adrenoleukodystrophy type Disease.
- Adrenoleukodystrophy type AilmentCondition.
- Adrenoleukodystrophy type Situation.
- Adrenoleukodystrophy comment "Adrenoleukodystrophy (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.".
- Adrenoleukodystrophy label "Adrenoleucodistrofia".
- Adrenoleukodystrophy label "Adrenoleucodistrofia".
- Adrenoleukodystrophy label "Adrenoleucodistrofia".
- Adrenoleukodystrophy label "Adrenoleukodystrofia".
- Adrenoleukodystrophy label "Adrenoleukodystrofie".
- Adrenoleukodystrophy label "Adrenoleukodystrophie".
- Adrenoleukodystrophy label "Adrenoleukodystrophy".
- Adrenoleukodystrophy label "Adrénoleucodystrophie liée à l'X".
- Adrenoleukodystrophy label "副腎白質ジストロフィー".
- Adrenoleukodystrophy label "腎上腺腦白質失養症".
- Adrenoleukodystrophy sameAs Adrenoleukodystrophie.
- Adrenoleukodystrophy sameAs Αδρενολευκοδυστροφία.
- Adrenoleukodystrophy sameAs Adrenoleucodistrofia.
- Adrenoleukodystrophy sameAs Adrénoleucodystrophie_liée_à_l'X.
- Adrenoleukodystrophy sameAs Adrenoleucodistrofia.
- Adrenoleukodystrophy sameAs 副腎白質ジストロフィー.
- Adrenoleukodystrophy sameAs 부신백질이영양증.
- Adrenoleukodystrophy sameAs Adrenoleukodystrofie.
- Adrenoleukodystrophy sameAs Adrenoleukodystrofia.
- Adrenoleukodystrophy sameAs Adrenoleucodistrofia.
- Adrenoleukodystrophy sameAs Adrenoleukodystrophy.
- Adrenoleukodystrophy sameAs m.0dxc3.
- Adrenoleukodystrophy sameAs Q366964.
- Adrenoleukodystrophy sameAs Q366964.
- Adrenoleukodystrophy sameAs 41.
- Adrenoleukodystrophy sameAs Adrenoleukodystrophy.
- Adrenoleukodystrophy wasDerivedFrom Adrenoleukodystrophy?oldid=606785148.
- Adrenoleukodystrophy depiction Adrenoleukodystrophy.jpg.
- Adrenoleukodystrophy isPrimaryTopicOf Adrenoleukodystrophy.
- Adrenoleukodystrophy name "Adrenoleukodystrophy".