Matches in SemOpenAlex for { <https://semopenalex.org/work/W2413177866> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W2413177866 endingPage "65" @default.
- W2413177866 startingPage "354" @default.
- W2413177866 abstract "Congenital defects of adrenal steroidogenesis comprises a group of autosomally recessive disorders, which are usually caused by inactivating mutations in single enzymes involved in adrenal steroid biosynthesis. Each of the defects causes different biochemical consequences and clinical features. A different degree of enzyme dysfunction is responsible for a wide range of phenotypic expression even in the same disorder. The basis for the diagnosis of inborn errors of steroidogenesis are often refined methods for steroid determination. Because these defects may result in life-threatening conditions and, if not treated, lead to serious complications, its is essential to consider their presence in a differential diagnosis of various symptoms. Deficiency of 21-hydroxylase, the most common of these disorders, has been recently extensively reviewed. Therefore, this paper discusses the etiopathogenesis, clinical manifestation, biochemical abnormalities and management of other less frequent defects of adrenal steroidogenesis." @default.
- W2413177866 created "2016-06-24" @default.
- W2413177866 creator A5009237297 @default.
- W2413177866 creator A5011791445 @default.
- W2413177866 creator A5026802293 @default.
- W2413177866 date "2008-09-09" @default.
- W2413177866 modified "2023-09-23" @default.
- W2413177866 title "[Rare congenital defects of adrenal steroidogenesis]." @default.
- W2413177866 cites W113279139 @default.
- W2413177866 cites W150654608 @default.
- W2413177866 cites W1795247900 @default.
- W2413177866 cites W1958761819 @default.
- W2413177866 cites W1966683746 @default.
- W2413177866 cites W1966756384 @default.
- W2413177866 cites W1968014809 @default.
- W2413177866 cites W1969371805 @default.
- W2413177866 cites W1969503127 @default.
- W2413177866 cites W1971299610 @default.
- W2413177866 cites W1987747699 @default.
- W2413177866 cites W1988193919 @default.
- W2413177866 cites W1990739290 @default.
- W2413177866 cites W1992571492 @default.
- W2413177866 cites W2001631183 @default.
- W2413177866 cites W2001851172 @default.
- W2413177866 cites W2003774846 @default.
- W2413177866 cites W2004981612 @default.
- W2413177866 cites W2005862479 @default.
- W2413177866 cites W2010245711 @default.
- W2413177866 cites W2016125985 @default.
- W2413177866 cites W2017576713 @default.
- W2413177866 cites W2019194920 @default.
- W2413177866 cites W2028310185 @default.
- W2413177866 cites W2037607727 @default.
- W2413177866 cites W2038984545 @default.
- W2413177866 cites W2040822167 @default.
- W2413177866 cites W2041852906 @default.
- W2413177866 cites W2046767934 @default.
- W2413177866 cites W2059571243 @default.
- W2413177866 cites W2060930388 @default.
- W2413177866 cites W2085609196 @default.
- W2413177866 cites W2087390151 @default.
- W2413177866 cites W2089482532 @default.
- W2413177866 cites W2090002540 @default.
- W2413177866 cites W2093804559 @default.
- W2413177866 cites W2110634628 @default.
- W2413177866 cites W2114642500 @default.
- W2413177866 cites W2117423855 @default.
- W2413177866 cites W2117456369 @default.
- W2413177866 cites W2140170947 @default.
- W2413177866 cites W2163430852 @default.
- W2413177866 cites W2167554551 @default.
- W2413177866 cites W2168431817 @default.
- W2413177866 cites W2335083369 @default.
- W2413177866 cites W2409793178 @default.
- W2413177866 cites W2419592553 @default.
- W2413177866 cites W2916036226 @default.
- W2413177866 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18777507" @default.
- W2413177866 hasPublicationYear "2008" @default.
- W2413177866 type Work @default.
- W2413177866 sameAs 2413177866 @default.
- W2413177866 citedByCount "0" @default.
- W2413177866 crossrefType "journal-article" @default.
- W2413177866 hasAuthorship W2413177866A5009237297 @default.
- W2413177866 hasAuthorship W2413177866A5011791445 @default.
- W2413177866 hasAuthorship W2413177866A5026802293 @default.
- W2413177866 hasConcept C126322002 @default.
- W2413177866 hasConcept C29456083 @default.
- W2413177866 hasConcept C71924100 @default.
- W2413177866 hasConceptScore W2413177866C126322002 @default.
- W2413177866 hasConceptScore W2413177866C29456083 @default.
- W2413177866 hasConceptScore W2413177866C71924100 @default.
- W2413177866 hasIssue "4" @default.
- W2413177866 hasLocation W24131778661 @default.
- W2413177866 hasOpenAccess W2413177866 @default.
- W2413177866 hasPrimaryLocation W24131778661 @default.
- W2413177866 hasVolume "59" @default.
- W2413177866 isParatext "false" @default.
- W2413177866 isRetracted "false" @default.
- W2413177866 magId "2413177866" @default.
- W2413177866 workType "article" @default.