Matches in SemOpenAlex for { <https://semopenalex.org/work/W52698633> ?p ?o ?g. }
Showing items 1 to 77 of
77
with 100 items per page.
- W52698633 abstract "Metachromatic leukodystrophy (sulfatide lipidosis), an autosomal recessive neurodegenerative disorder of sulfatide catabolism, occurs in 1:40 000 births. Clinical variability represents a continuum of phenotypes, late infantile to adulthood, including regression of development in late infancy, declining schoolwork during childhood/adolescence, and poor work performance in adulthood. White matter abnormalities characterize late infantile and childhood presentations, gray and white matter abnormalities in later forms. Diagnosis requires assessing deficient arylsulfatase A activity in white cells/cultured skin fibroblasts; the rare protein activator deficiency requires demonstration of sulfatide sulfatase deficiency in cultured skin fibroblasts and absence of activator substance. Treatment is limited to supportive care." @default.
- W52698633 created "2016-06-24" @default.
- W52698633 creator A5076163771 @default.
- W52698633 date "2014-01-01" @default.
- W52698633 modified "2023-09-26" @default.
- W52698633 title "Metachromatic Leukodystrophy (Sulfatide Lipidosis)" @default.
- W52698633 cites W2006451564 @default.
- W52698633 cites W2029840709 @default.
- W52698633 cites W2037257433 @default.
- W52698633 cites W2042912916 @default.
- W52698633 cites W2123526955 @default.
- W52698633 cites W2151794393 @default.
- W52698633 cites W2170284722 @default.
- W52698633 doi "https://doi.org/10.1016/b978-0-12-385157-4.00104-4" @default.
- W52698633 hasPublicationYear "2014" @default.
- W52698633 type Work @default.
- W52698633 sameAs 52698633 @default.
- W52698633 citedByCount "0" @default.
- W52698633 crossrefType "book-chapter" @default.
- W52698633 hasAuthorship W52698633A5076163771 @default.
- W52698633 hasConcept C126322002 @default.
- W52698633 hasConcept C126838900 @default.
- W52698633 hasConcept C134018914 @default.
- W52698633 hasConcept C138496976 @default.
- W52698633 hasConcept C142724271 @default.
- W52698633 hasConcept C143409427 @default.
- W52698633 hasConcept C15744967 @default.
- W52698633 hasConcept C2776100374 @default.
- W52698633 hasConcept C2776326100 @default.
- W52698633 hasConcept C2779134260 @default.
- W52698633 hasConcept C2779247111 @default.
- W52698633 hasConcept C2781192897 @default.
- W52698633 hasConcept C2911114149 @default.
- W52698633 hasConcept C71924100 @default.
- W52698633 hasConcept C86803240 @default.
- W52698633 hasConceptScore W52698633C126322002 @default.
- W52698633 hasConceptScore W52698633C126838900 @default.
- W52698633 hasConceptScore W52698633C134018914 @default.
- W52698633 hasConceptScore W52698633C138496976 @default.
- W52698633 hasConceptScore W52698633C142724271 @default.
- W52698633 hasConceptScore W52698633C143409427 @default.
- W52698633 hasConceptScore W52698633C15744967 @default.
- W52698633 hasConceptScore W52698633C2776100374 @default.
- W52698633 hasConceptScore W52698633C2776326100 @default.
- W52698633 hasConceptScore W52698633C2779134260 @default.
- W52698633 hasConceptScore W52698633C2779247111 @default.
- W52698633 hasConceptScore W52698633C2781192897 @default.
- W52698633 hasConceptScore W52698633C2911114149 @default.
- W52698633 hasConceptScore W52698633C71924100 @default.
- W52698633 hasConceptScore W52698633C86803240 @default.
- W52698633 hasLocation W526986331 @default.
- W52698633 hasOpenAccess W52698633 @default.
- W52698633 hasPrimaryLocation W526986331 @default.
- W52698633 hasRelatedWork W106727523 @default.
- W52698633 hasRelatedWork W1966417542 @default.
- W52698633 hasRelatedWork W1970734670 @default.
- W52698633 hasRelatedWork W1984269879 @default.
- W52698633 hasRelatedWork W2005883614 @default.
- W52698633 hasRelatedWork W2007635007 @default.
- W52698633 hasRelatedWork W2029378838 @default.
- W52698633 hasRelatedWork W2042833745 @default.
- W52698633 hasRelatedWork W2063699236 @default.
- W52698633 hasRelatedWork W2158767137 @default.
- W52698633 hasRelatedWork W2409471552 @default.
- W52698633 hasRelatedWork W28007576 @default.
- W52698633 hasRelatedWork W2958670318 @default.
- W52698633 hasRelatedWork W297122731 @default.
- W52698633 hasRelatedWork W3030305857 @default.
- W52698633 hasRelatedWork W3094308120 @default.
- W52698633 hasRelatedWork W3147377004 @default.
- W52698633 hasRelatedWork W48244512 @default.
- W52698633 hasRelatedWork W77228645 @default.
- W52698633 hasRelatedWork W3119129293 @default.
- W52698633 isParatext "false" @default.
- W52698633 isRetracted "false" @default.
- W52698633 magId "52698633" @default.
- W52698633 workType "book-chapter" @default.