Matches in SemOpenAlex for { <https://semopenalex.org/work/W162300010> ?p ?o ?g. }
Showing items 1 to 67 of
67
with 100 items per page.
- W162300010 abstract "X-linked adrenoleukodystrophy (X-ALD) is inherited neuro-endocrine disorder characterized by primary adrenal insufficiency (Addison's disease) and demyelination. The disease has a broad clinical expression with several well-recognized phenotypes defined by the age of onset and the nature of the neurologic symptoms. These phenotypes range from a rapidly progressive, fatal childhood form with inflammatory cerebral demyelination to an Addison's disease variant that lacks neurologic symptoms. The most common phenotype, accounting for approximately 50% of patients, is adrenomyeloneuropathy, which has onset of spastic paraparesis and adrenal insufficiency in the second-to-fourth decade of life. Heterozygous female carriers of X-ALD may develop mild spastic paraparesis later in life. The overall incidence of X-ALD is estimated to be 1 in 18,000. The disease is caused by mutations in ABCD1 on the X chromosome that codes for ALDP, a peroxisomal membrane protein that is necessary for the oxidation of very-long-chain fatty acids (VLCFA). Accumulation of VLCFA in tissues is responsible for the adrenal and neurologic symptoms although the exact pathogenic mechanisms are still unclear. The diagnosis relies on measuring elevated VLCFA in plasma and/or mutation analysis of ABCD1. Newborn screening for X-ALD has recently been initiated in the United States by measuring elevated VLCFA in lipids of dried blood spots and promises to detect all male patients before the onset of symptoms. The adrenal insufficiency is easily treated with hormone replacement and the progressive cerebral demyelination may be halted if treated early with hematopoietic stem cell transplantation and possibly gene therapy." @default.
- W162300010 created "2016-06-24" @default.
- W162300010 creator A5052285917 @default.
- W162300010 date "2004-01-01" @default.
- W162300010 modified "2023-09-25" @default.
- W162300010 title "X-Linked Adrenoleukodystrophy/Adrenomyeloneuropathy" @default.
- W162300010 cites W1481406810 @default.
- W162300010 cites W2035026471 @default.
- W162300010 cites W2040981313 @default.
- W162300010 cites W2057909748 @default.
- W162300010 cites W2222090074 @default.
- W162300010 doi "https://doi.org/10.1016/b0-12-475570-4/00044-5" @default.
- W162300010 hasPublicationYear "2004" @default.
- W162300010 type Work @default.
- W162300010 sameAs 162300010 @default.
- W162300010 citedByCount "0" @default.
- W162300010 crossrefType "book-chapter" @default.
- W162300010 hasAuthorship W162300010A5052285917 @default.
- W162300010 hasConcept C104317684 @default.
- W162300010 hasConcept C126322002 @default.
- W162300010 hasConcept C127078168 @default.
- W162300010 hasConcept C127716648 @default.
- W162300010 hasConcept C134018914 @default.
- W162300010 hasConcept C170493617 @default.
- W162300010 hasConcept C187212893 @default.
- W162300010 hasConcept C2777150068 @default.
- W162300010 hasConcept C2777817097 @default.
- W162300010 hasConcept C2778129406 @default.
- W162300010 hasConcept C2779134260 @default.
- W162300010 hasConcept C2781317408 @default.
- W162300010 hasConcept C2911038130 @default.
- W162300010 hasConcept C54355233 @default.
- W162300010 hasConcept C71924100 @default.
- W162300010 hasConcept C86803240 @default.
- W162300010 hasConceptScore W162300010C104317684 @default.
- W162300010 hasConceptScore W162300010C126322002 @default.
- W162300010 hasConceptScore W162300010C127078168 @default.
- W162300010 hasConceptScore W162300010C127716648 @default.
- W162300010 hasConceptScore W162300010C134018914 @default.
- W162300010 hasConceptScore W162300010C170493617 @default.
- W162300010 hasConceptScore W162300010C187212893 @default.
- W162300010 hasConceptScore W162300010C2777150068 @default.
- W162300010 hasConceptScore W162300010C2777817097 @default.
- W162300010 hasConceptScore W162300010C2778129406 @default.
- W162300010 hasConceptScore W162300010C2779134260 @default.
- W162300010 hasConceptScore W162300010C2781317408 @default.
- W162300010 hasConceptScore W162300010C2911038130 @default.
- W162300010 hasConceptScore W162300010C54355233 @default.
- W162300010 hasConceptScore W162300010C71924100 @default.
- W162300010 hasConceptScore W162300010C86803240 @default.
- W162300010 hasLocation W1623000101 @default.
- W162300010 hasOpenAccess W162300010 @default.
- W162300010 hasPrimaryLocation W1623000101 @default.
- W162300010 hasRelatedWork W2003644239 @default.
- W162300010 hasRelatedWork W2044929463 @default.
- W162300010 hasRelatedWork W2074571932 @default.
- W162300010 hasRelatedWork W2104646605 @default.
- W162300010 hasRelatedWork W2111220794 @default.
- W162300010 hasRelatedWork W2384420119 @default.
- W162300010 hasRelatedWork W2409123628 @default.
- W162300010 hasRelatedWork W2418610364 @default.
- W162300010 hasRelatedWork W4244992444 @default.
- W162300010 hasRelatedWork W48829707 @default.
- W162300010 isParatext "false" @default.
- W162300010 isRetracted "false" @default.
- W162300010 magId "162300010" @default.
- W162300010 workType "book-chapter" @default.