Matches in SemOpenAlex for { <https://semopenalex.org/work/W2266893453> ?p ?o ?g. }
- W2266893453 endingPage "8" @default.
- W2266893453 startingPage "1" @default.
- W2266893453 abstract "Congenital adrenal hyperplasia(CAH)due to 21-hydroxylase deficiency (21-OHD) is an inherited autosomal recessive disorder. Its incidence is 1 in 10,000 to 20,000 worldwide. This disease shows phenotypic differences, and it is divided into three forms i.e., the salt wasting (SW), simple virilizing (SV), and nonclassic (NC) forms. The most severe form of SW manifests in the first months of life with life-threatening adrenal insufficiency, leading to death. To prevent death by adrenal insufficiency in neonates with the SW form and wrong gender assignment of 46,XX female patients with SW and SV, neonatal mass screening of 21-OHD is performed in several countries including Japan. However, the positive predictive value (PPV) remains low, especially in preterm infants. To reduce the false positive rate and increase the PPV, liquid chromatography followed by tandem mass spectrometry (LC-MS/MS) as a second-tier test may be useful. In this review, the current knowledge on neonatal mass screening of 21-OHD is summarized." @default.
- W2266893453 created "2016-06-24" @default.
- W2266893453 creator A5035193285 @default.
- W2266893453 creator A5048943902 @default.
- W2266893453 date "2016-01-01" @default.
- W2266893453 modified "2023-09-23" @default.
- W2266893453 title "Neonatal mass screening for 21-hydroxylase deficiency" @default.
- W2266893453 cites W1041191024 @default.
- W2266893453 cites W1574323651 @default.
- W2266893453 cites W1963859776 @default.
- W2266893453 cites W1965556296 @default.
- W2266893453 cites W1968189544 @default.
- W2266893453 cites W1970499735 @default.
- W2266893453 cites W1972087695 @default.
- W2266893453 cites W1980974883 @default.
- W2266893453 cites W1991812090 @default.
- W2266893453 cites W1995900346 @default.
- W2266893453 cites W2005997531 @default.
- W2266893453 cites W2009445846 @default.
- W2266893453 cites W2010030025 @default.
- W2266893453 cites W2012041161 @default.
- W2266893453 cites W2018932026 @default.
- W2266893453 cites W2022040813 @default.
- W2266893453 cites W2037725752 @default.
- W2266893453 cites W2044722834 @default.
- W2266893453 cites W2058517675 @default.
- W2266893453 cites W2059468027 @default.
- W2266893453 cites W2064380238 @default.
- W2266893453 cites W2066410117 @default.
- W2266893453 cites W2067752156 @default.
- W2266893453 cites W2080014444 @default.
- W2266893453 cites W2083269962 @default.
- W2266893453 cites W2091409195 @default.
- W2266893453 cites W2102057504 @default.
- W2266893453 cites W2111945967 @default.
- W2266893453 cites W2117509053 @default.
- W2266893453 cites W2121488645 @default.
- W2266893453 cites W2127401208 @default.
- W2266893453 cites W2148614804 @default.
- W2266893453 cites W2156177778 @default.
- W2266893453 cites W2164861242 @default.
- W2266893453 cites W2170257290 @default.
- W2266893453 cites W2468830782 @default.
- W2266893453 cites W4210400066 @default.
- W2266893453 cites W4237226358 @default.
- W2266893453 cites W4245214929 @default.
- W2266893453 cites W4376848764 @default.
- W2266893453 cites W33862104 @default.
- W2266893453 doi "https://doi.org/10.1297/cpe.25.1" @default.
- W2266893453 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4738187" @default.
- W2266893453 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26865749" @default.
- W2266893453 hasPublicationYear "2016" @default.
- W2266893453 type Work @default.
- W2266893453 sameAs 2266893453 @default.
- W2266893453 citedByCount "17" @default.
- W2266893453 countsByYear W22668934532016 @default.
- W2266893453 countsByYear W22668934532017 @default.
- W2266893453 countsByYear W22668934532018 @default.
- W2266893453 countsByYear W22668934532019 @default.
- W2266893453 countsByYear W22668934532020 @default.
- W2266893453 countsByYear W22668934532021 @default.
- W2266893453 countsByYear W22668934532022 @default.
- W2266893453 crossrefType "journal-article" @default.
- W2266893453 hasAuthorship W2266893453A5035193285 @default.
- W2266893453 hasAuthorship W2266893453A5048943902 @default.
- W2266893453 hasBestOaLocation W22668934531 @default.
- W2266893453 hasConcept C120665830 @default.
- W2266893453 hasConcept C121332964 @default.
- W2266893453 hasConcept C126322002 @default.
- W2266893453 hasConcept C187212893 @default.
- W2266893453 hasConcept C2776169613 @default.
- W2266893453 hasConcept C2777767042 @default.
- W2266893453 hasConcept C2780321258 @default.
- W2266893453 hasConcept C61511704 @default.
- W2266893453 hasConcept C71924100 @default.
- W2266893453 hasConceptScore W2266893453C120665830 @default.
- W2266893453 hasConceptScore W2266893453C121332964 @default.
- W2266893453 hasConceptScore W2266893453C126322002 @default.
- W2266893453 hasConceptScore W2266893453C187212893 @default.
- W2266893453 hasConceptScore W2266893453C2776169613 @default.
- W2266893453 hasConceptScore W2266893453C2777767042 @default.
- W2266893453 hasConceptScore W2266893453C2780321258 @default.
- W2266893453 hasConceptScore W2266893453C61511704 @default.
- W2266893453 hasConceptScore W2266893453C71924100 @default.
- W2266893453 hasIssue "1" @default.
- W2266893453 hasLocation W22668934531 @default.
- W2266893453 hasLocation W22668934532 @default.
- W2266893453 hasLocation W22668934533 @default.
- W2266893453 hasLocation W22668934534 @default.
- W2266893453 hasOpenAccess W2266893453 @default.
- W2266893453 hasPrimaryLocation W22668934531 @default.
- W2266893453 hasRelatedWork W1496407318 @default.
- W2266893453 hasRelatedWork W2101943800 @default.
- W2266893453 hasRelatedWork W2104143494 @default.
- W2266893453 hasRelatedWork W2417357977 @default.
- W2266893453 hasRelatedWork W2466127598 @default.
- W2266893453 hasRelatedWork W2990142137 @default.
- W2266893453 hasRelatedWork W3003638574 @default.