Matches in SemOpenAlex for { <https://semopenalex.org/work/W2183007128> ?p ?o ?g. }
Showing items 1 to 80 of
80
with 100 items per page.
- W2183007128 endingPage "393" @default.
- W2183007128 startingPage "390" @default.
- W2183007128 abstract "Consanguinity is known to be associated with an increase in the prevalence of autosomal recessive disorders such as autosomal recessive congenital ichthyosis (ARCI). ARCI often responds well to retinoid treatment. We describe a patient with ARCI who improved under isotretinoin treatment. The patient subsequently developed elevated levels of serum creatinine phosphokinase (CPK), which led to the diagnosis of a second autosomal recessive disorder, dysferlinopathy, a rare myopathy characterized by muscle weakness, decreased tendon reflexes and marked elevation of CPK levels. This report demonstrates the need for physicians to remain alert to the possible coexistence of rare and mutually relevant disorders in populations with a high rate of consanguinity." @default.
- W2183007128 created "2016-06-24" @default.
- W2183007128 creator A5014171494 @default.
- W2183007128 creator A5016295694 @default.
- W2183007128 creator A5031633819 @default.
- W2183007128 creator A5050718731 @default.
- W2183007128 creator A5058989691 @default.
- W2183007128 creator A5060901056 @default.
- W2183007128 creator A5074521489 @default.
- W2183007128 creator A5076111104 @default.
- W2183007128 date "2015-12-01" @default.
- W2183007128 modified "2023-10-04" @default.
- W2183007128 title "Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy" @default.
- W2183007128 cites W1964938039 @default.
- W2183007128 cites W1990182647 @default.
- W2183007128 cites W1992189422 @default.
- W2183007128 cites W2010569859 @default.
- W2183007128 cites W2073532048 @default.
- W2183007128 cites W2085384464 @default.
- W2183007128 cites W2092539326 @default.
- W2183007128 cites W2119155691 @default.
- W2183007128 cites W2144200990 @default.
- W2183007128 cites W2148537726 @default.
- W2183007128 doi "https://doi.org/10.1111/ced.12774" @default.
- W2183007128 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26620441" @default.
- W2183007128 hasPublicationYear "2015" @default.
- W2183007128 type Work @default.
- W2183007128 sameAs 2183007128 @default.
- W2183007128 citedByCount "4" @default.
- W2183007128 countsByYear W21830071282016 @default.
- W2183007128 countsByYear W21830071282019 @default.
- W2183007128 countsByYear W21830071282021 @default.
- W2183007128 countsByYear W21830071282022 @default.
- W2183007128 crossrefType "journal-article" @default.
- W2183007128 hasAuthorship W2183007128A5014171494 @default.
- W2183007128 hasAuthorship W2183007128A5016295694 @default.
- W2183007128 hasAuthorship W2183007128A5031633819 @default.
- W2183007128 hasAuthorship W2183007128A5050718731 @default.
- W2183007128 hasAuthorship W2183007128A5058989691 @default.
- W2183007128 hasAuthorship W2183007128A5060901056 @default.
- W2183007128 hasAuthorship W2183007128A5074521489 @default.
- W2183007128 hasAuthorship W2183007128A5076111104 @default.
- W2183007128 hasConcept C16005928 @default.
- W2183007128 hasConcept C187212893 @default.
- W2183007128 hasConcept C2776285725 @default.
- W2183007128 hasConcept C2776292323 @default.
- W2183007128 hasConcept C2777673923 @default.
- W2183007128 hasConcept C2779923321 @default.
- W2183007128 hasConcept C2910530303 @default.
- W2183007128 hasConcept C71924100 @default.
- W2183007128 hasConceptScore W2183007128C16005928 @default.
- W2183007128 hasConceptScore W2183007128C187212893 @default.
- W2183007128 hasConceptScore W2183007128C2776285725 @default.
- W2183007128 hasConceptScore W2183007128C2776292323 @default.
- W2183007128 hasConceptScore W2183007128C2777673923 @default.
- W2183007128 hasConceptScore W2183007128C2779923321 @default.
- W2183007128 hasConceptScore W2183007128C2910530303 @default.
- W2183007128 hasConceptScore W2183007128C71924100 @default.
- W2183007128 hasIssue "4" @default.
- W2183007128 hasLocation W21830071281 @default.
- W2183007128 hasLocation W21830071282 @default.
- W2183007128 hasOpenAccess W2183007128 @default.
- W2183007128 hasPrimaryLocation W21830071281 @default.
- W2183007128 hasRelatedWork W2072845182 @default.
- W2183007128 hasRelatedWork W2114555000 @default.
- W2183007128 hasRelatedWork W2168325931 @default.
- W2183007128 hasRelatedWork W2183007128 @default.
- W2183007128 hasRelatedWork W2554718016 @default.
- W2183007128 hasRelatedWork W2606301007 @default.
- W2183007128 hasRelatedWork W2751500202 @default.
- W2183007128 hasRelatedWork W35990670 @default.
- W2183007128 hasRelatedWork W4321612189 @default.
- W2183007128 hasRelatedWork W2162931529 @default.
- W2183007128 hasVolume "41" @default.
- W2183007128 isParatext "false" @default.
- W2183007128 isRetracted "false" @default.
- W2183007128 magId "2183007128" @default.
- W2183007128 workType "article" @default.