Matches in SemOpenAlex for { <https://semopenalex.org/work/W2168129976> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W2168129976 endingPage "299" @default.
- W2168129976 startingPage "295" @default.
- W2168129976 abstract "Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using dried blood-soaked filter paper cards, biotinidase activity was determined in the sera of 225,136 newborns in Brazil. Mutation analysis performed on DNA from 21 babies with low serum biotinidase activity confirmed that 3 had profound biotinidase deficiency (less than 10% of mean normal sera biotinidase activity), 10 had partial biotinidase deficiency (10 to 30% of mean normal serum activity), 1 was homozygous for partial biotinidase deficiency, 4 were heterozygous for either profound or partial deficiency, and 3 were normal. Variability in serum enzyme activities and discrepancies with mutation analyses were probably due to inappropriate handling and storage of samples sent to the laboratory. Obtaining an appropriate control serum at the same time as that of the suspected child will undoubtedly decrease the false-positive rate (0.09%). Mutation analysis can be used to confirm the genotype of these children. The estimated incidence of biotinidase deficiency in Brazil is about 1 in 9,000, higher than in most other countries. Screening and treatment of biotinidase deficiency are effective and warranted. These results strongly suggest that biotinidase deficiency should be included in the newborn mass screening program of Brazil." @default.
- W2168129976 created "2016-06-24" @default.
- W2168129976 creator A5009328789 @default.
- W2168129976 creator A5011283569 @default.
- W2168129976 creator A5014951475 @default.
- W2168129976 creator A5038488406 @default.
- W2168129976 creator A5067638486 @default.
- W2168129976 creator A5070849244 @default.
- W2168129976 creator A5071402090 @default.
- W2168129976 creator A5076789244 @default.
- W2168129976 creator A5087898421 @default.
- W2168129976 creator A5089564343 @default.
- W2168129976 date "2004-03-01" @default.
- W2168129976 modified "2023-10-10" @default.
- W2168129976 title "Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations" @default.
- W2168129976 cites W1937953898 @default.
- W2168129976 cites W1967522106 @default.
- W2168129976 cites W1986505248 @default.
- W2168129976 cites W1993432318 @default.
- W2168129976 cites W1993834149 @default.
- W2168129976 cites W1996930746 @default.
- W2168129976 cites W2014183776 @default.
- W2168129976 cites W2074952316 @default.
- W2168129976 cites W2084193894 @default.
- W2168129976 doi "https://doi.org/10.1590/s0100-879x2004000300001" @default.
- W2168129976 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15060693" @default.
- W2168129976 hasPublicationYear "2004" @default.
- W2168129976 type Work @default.
- W2168129976 sameAs 2168129976 @default.
- W2168129976 citedByCount "47" @default.
- W2168129976 countsByYear W21681299762012 @default.
- W2168129976 countsByYear W21681299762013 @default.
- W2168129976 countsByYear W21681299762014 @default.
- W2168129976 countsByYear W21681299762015 @default.
- W2168129976 countsByYear W21681299762016 @default.
- W2168129976 countsByYear W21681299762017 @default.
- W2168129976 countsByYear W21681299762018 @default.
- W2168129976 countsByYear W21681299762019 @default.
- W2168129976 countsByYear W21681299762020 @default.
- W2168129976 countsByYear W21681299762021 @default.
- W2168129976 countsByYear W21681299762022 @default.
- W2168129976 countsByYear W21681299762023 @default.
- W2168129976 crossrefType "journal-article" @default.
- W2168129976 hasAuthorship W2168129976A5009328789 @default.
- W2168129976 hasAuthorship W2168129976A5011283569 @default.
- W2168129976 hasAuthorship W2168129976A5014951475 @default.
- W2168129976 hasAuthorship W2168129976A5038488406 @default.
- W2168129976 hasAuthorship W2168129976A5067638486 @default.
- W2168129976 hasAuthorship W2168129976A5070849244 @default.
- W2168129976 hasAuthorship W2168129976A5071402090 @default.
- W2168129976 hasAuthorship W2168129976A5076789244 @default.
- W2168129976 hasAuthorship W2168129976A5087898421 @default.
- W2168129976 hasAuthorship W2168129976A5089564343 @default.
- W2168129976 hasBestOaLocation W21681299761 @default.
- W2168129976 hasConcept C126322002 @default.
- W2168129976 hasConcept C134018914 @default.
- W2168129976 hasConcept C187212893 @default.
- W2168129976 hasConcept C2776169613 @default.
- W2168129976 hasConcept C2778038050 @default.
- W2168129976 hasConcept C2778204606 @default.
- W2168129976 hasConcept C55493867 @default.
- W2168129976 hasConcept C71924100 @default.
- W2168129976 hasConcept C86803240 @default.
- W2168129976 hasConceptScore W2168129976C126322002 @default.
- W2168129976 hasConceptScore W2168129976C134018914 @default.
- W2168129976 hasConceptScore W2168129976C187212893 @default.
- W2168129976 hasConceptScore W2168129976C2776169613 @default.
- W2168129976 hasConceptScore W2168129976C2778038050 @default.
- W2168129976 hasConceptScore W2168129976C2778204606 @default.
- W2168129976 hasConceptScore W2168129976C55493867 @default.
- W2168129976 hasConceptScore W2168129976C71924100 @default.
- W2168129976 hasConceptScore W2168129976C86803240 @default.
- W2168129976 hasIssue "3" @default.
- W2168129976 hasLocation W21681299761 @default.
- W2168129976 hasLocation W21681299762 @default.
- W2168129976 hasLocation W21681299763 @default.
- W2168129976 hasLocation W21681299764 @default.
- W2168129976 hasOpenAccess W2168129976 @default.
- W2168129976 hasPrimaryLocation W21681299761 @default.
- W2168129976 hasRelatedWork W1966504330 @default.
- W2168129976 hasRelatedWork W1979139803 @default.
- W2168129976 hasRelatedWork W2029703173 @default.
- W2168129976 hasRelatedWork W2037631372 @default.
- W2168129976 hasRelatedWork W2038068164 @default.
- W2168129976 hasRelatedWork W2046842827 @default.
- W2168129976 hasRelatedWork W2065739849 @default.
- W2168129976 hasRelatedWork W2122570189 @default.
- W2168129976 hasRelatedWork W2247750861 @default.
- W2168129976 hasRelatedWork W2460370041 @default.
- W2168129976 hasVolume "37" @default.
- W2168129976 isParatext "false" @default.
- W2168129976 isRetracted "false" @default.
- W2168129976 magId "2168129976" @default.
- W2168129976 workType "article" @default.