Matches in SemOpenAlex for { <https://semopenalex.org/work/W113505557> ?p ?o ?g. }
Showing items 1 to 80 of
80
with 100 items per page.
- W113505557 endingPage "37" @default.
- W113505557 startingPage "31" @default.
- W113505557 abstract "Mulibrey nanism (MUscle-LIver-BRain-EYe nanism, MIM 253250) is an autosomal recessive disorder with severe prenatal-onset growth failure and multi-organ manifestations including cardiovascular, hepatic, endocrine, skeletal and opthalmologic abnormalities (Perheentupa et al, 1973; Lipsanen-Nyman, 1986; Lapunzina et al., 1995). Mulibrey nanism occurs worldwide, and some 100 patients have been identified of whom more than 80 are Finnish. Mutations in the TRIM37 gene (previously designated MUL) underlie mulibrey nanism (Avela et al., 2000). The TRIM37 gene product localizes to peroxisomes in cultured cells, which suggests that mulibrey nanism can be classified as a novel peroxisomal disorder (Kallijärvi et al., 2002). The fact that mulibrey nanism shares symptoms with known peroxisomal disorders supports the molecular evidence. Here, we discuss the clinical features of the disorder, as well as the current knowledge on the TRIM37 gene, its mutations and the protein it encodes." @default.
- W113505557 created "2016-06-24" @default.
- W113505557 creator A5035327021 @default.
- W113505557 creator A5042806203 @default.
- W113505557 creator A5077610599 @default.
- W113505557 date "2003-01-01" @default.
- W113505557 modified "2023-09-27" @default.
- W113505557 title "Mulibrey Nanism - a Novel Peroxisomal Disorder" @default.
- W113505557 cites W1576464279 @default.
- W113505557 cites W1599334180 @default.
- W113505557 cites W171251970 @default.
- W113505557 cites W1832030339 @default.
- W113505557 cites W1920423370 @default.
- W113505557 cites W1967642652 @default.
- W113505557 cites W1971384917 @default.
- W113505557 cites W1995254238 @default.
- W113505557 cites W2003743550 @default.
- W113505557 cites W2008248994 @default.
- W113505557 cites W2017474273 @default.
- W113505557 cites W2020798055 @default.
- W113505557 cites W2030496867 @default.
- W113505557 cites W2030658521 @default.
- W113505557 cites W2061603465 @default.
- W113505557 cites W2075470465 @default.
- W113505557 cites W2077085480 @default.
- W113505557 cites W2088619528 @default.
- W113505557 cites W2116773729 @default.
- W113505557 cites W2120330229 @default.
- W113505557 cites W2131451310 @default.
- W113505557 cites W2624936342 @default.
- W113505557 doi "https://doi.org/10.1007/978-1-4419-9072-3_3" @default.
- W113505557 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/14713209" @default.
- W113505557 hasPublicationYear "2003" @default.
- W113505557 type Work @default.
- W113505557 sameAs 113505557 @default.
- W113505557 citedByCount "6" @default.
- W113505557 countsByYear W1135055572018 @default.
- W113505557 countsByYear W1135055572023 @default.
- W113505557 crossrefType "book-chapter" @default.
- W113505557 hasAuthorship W113505557A5035327021 @default.
- W113505557 hasAuthorship W113505557A5042806203 @default.
- W113505557 hasAuthorship W113505557A5077610599 @default.
- W113505557 hasConcept C104317684 @default.
- W113505557 hasConcept C126322002 @default.
- W113505557 hasConcept C127078168 @default.
- W113505557 hasConcept C134018914 @default.
- W113505557 hasConcept C2778111144 @default.
- W113505557 hasConcept C2781317408 @default.
- W113505557 hasConcept C54355233 @default.
- W113505557 hasConcept C71924100 @default.
- W113505557 hasConcept C86803240 @default.
- W113505557 hasConceptScore W113505557C104317684 @default.
- W113505557 hasConceptScore W113505557C126322002 @default.
- W113505557 hasConceptScore W113505557C127078168 @default.
- W113505557 hasConceptScore W113505557C134018914 @default.
- W113505557 hasConceptScore W113505557C2778111144 @default.
- W113505557 hasConceptScore W113505557C2781317408 @default.
- W113505557 hasConceptScore W113505557C54355233 @default.
- W113505557 hasConceptScore W113505557C71924100 @default.
- W113505557 hasConceptScore W113505557C86803240 @default.
- W113505557 hasLocation W1135055571 @default.
- W113505557 hasLocation W1135055572 @default.
- W113505557 hasOpenAccess W113505557 @default.
- W113505557 hasPrimaryLocation W1135055571 @default.
- W113505557 hasRelatedWork W1981853641 @default.
- W113505557 hasRelatedWork W1982197179 @default.
- W113505557 hasRelatedWork W2033732558 @default.
- W113505557 hasRelatedWork W2050472553 @default.
- W113505557 hasRelatedWork W2055764572 @default.
- W113505557 hasRelatedWork W2066778103 @default.
- W113505557 hasRelatedWork W2078978316 @default.
- W113505557 hasRelatedWork W2105710561 @default.
- W113505557 hasRelatedWork W2134390936 @default.
- W113505557 hasRelatedWork W2309649986 @default.
- W113505557 isParatext "false" @default.
- W113505557 isRetracted "false" @default.
- W113505557 magId "113505557" @default.
- W113505557 workType "book-chapter" @default.