Matches in SemOpenAlex for { <https://semopenalex.org/work/W2964089145> ?p ?o ?g. }
- W2964089145 endingPage "542" @default.
- W2964089145 startingPage "530" @default.
- W2964089145 abstract "Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron-sulphur cluster formation, and mitochondrial protein biosynthesis. We performed a retrospective multicentre European study of a cohort of childhood-onset CSA patients to explore genotype/phenotype correlations. We studied 23 females and 20 males with symptoms of CSA. Among the patients, the most frequently mutated genes were ALAS2 (n = 10; 23·3%) and SLC25A38 (n = 8; 18·6%), causing isolated forms of microcytic anaemia of varying severity. Five patients with SLC19A2 mutations suffered from thiamine-responsive megaloblastic anaemia and three exhibited the ‘anaemia, deafness and diabetes’ triad. Three patients with TRNT1 mutations exhibited severe early onset microcytic anaemia associated with thrombocytosis, and two exhibited B-cell immunodeficiency, inflammatory syndrome and psychomotor delay. The prognoses of patients with TRNT1 and SLC2A38 mutations were generally dismal because of comorbidities or severe iron overload. No molecular diagnosis could be established in 14/43 cases. This study emphasizes the frequency of ALAS2 and SLC25A38 mutations and provides the largest comprehensive analysis to date of genotype/phenotype correlations in CSA. Further studies of CSA patients with data recorded in an international registry would be helpful to improve patient management and establish standardized guidelines." @default.
- W2964089145 created "2019-07-30" @default.
- W2964089145 creator A5004706639 @default.
- W2964089145 creator A5011984974 @default.
- W2964089145 creator A5015163256 @default.
- W2964089145 creator A5017372134 @default.
- W2964089145 creator A5023710341 @default.
- W2964089145 creator A5032217532 @default.
- W2964089145 creator A5032753376 @default.
- W2964089145 creator A5035118371 @default.
- W2964089145 creator A5036063755 @default.
- W2964089145 creator A5036685228 @default.
- W2964089145 creator A5037136875 @default.
- W2964089145 creator A5040147996 @default.
- W2964089145 creator A5040756049 @default.
- W2964089145 creator A5044244437 @default.
- W2964089145 creator A5047925131 @default.
- W2964089145 creator A5055335263 @default.
- W2964089145 creator A5059187541 @default.
- W2964089145 creator A5061462589 @default.
- W2964089145 creator A5062357765 @default.
- W2964089145 creator A5064103067 @default.
- W2964089145 creator A5072347403 @default.
- W2964089145 creator A5075152895 @default.
- W2964089145 creator A5079699375 @default.
- W2964089145 creator A5080914048 @default.
- W2964089145 creator A5084913834 @default.
- W2964089145 date "2019-07-23" @default.
- W2964089145 modified "2023-10-17" @default.
- W2964089145 title "Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort" @default.
- W2964089145 cites W151933253 @default.
- W2964089145 cites W185078569 @default.
- W2964089145 cites W1886051503 @default.
- W2964089145 cites W1963703308 @default.
- W2964089145 cites W1968527322 @default.
- W2964089145 cites W1969567052 @default.
- W2964089145 cites W1977142594 @default.
- W2964089145 cites W1981093010 @default.
- W2964089145 cites W1992099526 @default.
- W2964089145 cites W1992803617 @default.
- W2964089145 cites W1994211392 @default.
- W2964089145 cites W2007318785 @default.
- W2964089145 cites W2013995411 @default.
- W2964089145 cites W2017142788 @default.
- W2964089145 cites W2018883732 @default.
- W2964089145 cites W2019039833 @default.
- W2964089145 cites W2019073080 @default.
- W2964089145 cites W2028671509 @default.
- W2964089145 cites W2032628875 @default.
- W2964089145 cites W2037856324 @default.
- W2964089145 cites W2038551541 @default.
- W2964089145 cites W2048706423 @default.
- W2964089145 cites W2053633780 @default.
- W2964089145 cites W2062686654 @default.
- W2964089145 cites W2069553612 @default.
- W2964089145 cites W2072324099 @default.
- W2964089145 cites W2079314569 @default.
- W2964089145 cites W2088903681 @default.
- W2964089145 cites W2089423590 @default.
- W2964089145 cites W2092519006 @default.
- W2964089145 cites W2095232221 @default.
- W2964089145 cites W2101019397 @default.
- W2964089145 cites W2107242273 @default.
- W2964089145 cites W2108344872 @default.
- W2964089145 cites W2136593078 @default.
- W2964089145 cites W2146155744 @default.
- W2964089145 cites W2148633793 @default.
- W2964089145 cites W2157208233 @default.
- W2964089145 cites W2402706699 @default.
- W2964089145 cites W2440276325 @default.
- W2964089145 cites W2462933444 @default.
- W2964089145 cites W2463506112 @default.
- W2964089145 cites W2480485646 @default.
- W2964089145 cites W2612834858 @default.
- W2964089145 cites W2616030353 @default.
- W2964089145 cites W2741053754 @default.
- W2964089145 cites W2884421154 @default.
- W2964089145 cites W2887192914 @default.
- W2964089145 cites W2899671011 @default.
- W2964089145 doi "https://doi.org/10.1111/bjh.16100" @default.
- W2964089145 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31338833" @default.
- W2964089145 hasPublicationYear "2019" @default.
- W2964089145 type Work @default.
- W2964089145 sameAs 2964089145 @default.
- W2964089145 citedByCount "16" @default.
- W2964089145 countsByYear W29640891452020 @default.
- W2964089145 countsByYear W29640891452021 @default.
- W2964089145 countsByYear W29640891452022 @default.
- W2964089145 countsByYear W29640891452023 @default.
- W2964089145 crossrefType "journal-article" @default.
- W2964089145 hasAuthorship W2964089145A5004706639 @default.
- W2964089145 hasAuthorship W2964089145A5011984974 @default.
- W2964089145 hasAuthorship W2964089145A5015163256 @default.
- W2964089145 hasAuthorship W2964089145A5017372134 @default.
- W2964089145 hasAuthorship W2964089145A5023710341 @default.
- W2964089145 hasAuthorship W2964089145A5032217532 @default.
- W2964089145 hasAuthorship W2964089145A5032753376 @default.
- W2964089145 hasAuthorship W2964089145A5035118371 @default.