FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2017656419> ?p ?o ?g. }

• W2017656419 endingPage "348" @default.
• W2017656419 startingPage "341" @default.
• W2017656419 abstract "In Greece, the National Newborn Screening Program was initiated in 1974 and is performed by the Institute of Child Health (ICH). However, there is a complete absence of conditions that have high rates of mortality and a relatively high prevalence listed in the Catalogue of Disorders screened by the ICH. Our laboratory has expanded the existing NBS program to include newborn screening for inborn errors of metabolism, screening for cystic fibrosis (the most common congenital disorder in the Greek population), congenital adrenal hyperplasia, and for biotinidase deficiency. From July 2007 to December 2009, 45,000 dried blood spots (DBS) were collected from infants born in Athens, Greece, and were analyzed. We present a report of our 30-month experience in the newborn screening area. The samples were tested for amino acidopathies, fatty acid oxidation disorders (FAOD), and organic acid metabolic disorders by applying flow injection analysis-electrospray ionization-tandem mass spectrometry (FIA-ESI-MS/MS); for cystic fibrosis by immunoreactive trypsinogen (IRT) measurement (time-resolved fluoroimmunoassay); for congenital adrenal hyperplasia by fluoroimmunoassay to measure the 17 hydroxy-progesterone level; and for biotinidase deficiency using a colorimetric method and a semiquantitative fluoroimmunoassay to determine biotinidase activity. Sample analysis resulted in establishing cutoff values for the respective disease markers for the first time in the Greek population. Four infants were identified with cystic fibrosis, two with congenital adrenal hyperplasia, two with phenylketonuria (PKU), one with medium-chain acyl CoA dehydrogenase deficiency (MCADD), and one with biotinidase deficiency. To the best of our knowledge, this is the first article reporting the status of expanded newborn screening in Greece." @default.
• W2017656419 created "2016-06-24" @default.
• W2017656419 creator A5003591532 @default.
• W2017656419 creator A5004484109 @default.
• W2017656419 creator A5007446040 @default.
• W2017656419 creator A5010806545 @default.
• W2017656419 creator A5042411531 @default.
• W2017656419 creator A5050350028 @default.
• W2017656419 creator A5052710030 @default.
• W2017656419 creator A5075408328 @default.
• W2017656419 creator A5079075787 @default.
• W2017656419 date "2010-08-19" @default.
• W2017656419 modified "2023-09-25" @default.
• W2017656419 title "Expanded newborn screening in Greece: 30 months of experience" @default.
• W2017656419 cites W1937953898 @default.
• W2017656419 cites W1978161598 @default.
• W2017656419 cites W1984005894 @default.
• W2017656419 cites W1998668872 @default.
• W2017656419 cites W2004235323 @default.
• W2017656419 cites W2022496213 @default.
• W2017656419 cites W2024268322 @default.
• W2017656419 cites W2031324788 @default.
• W2017656419 cites W2034018965 @default.
• W2017656419 cites W2035416331 @default.
• W2017656419 cites W2058803093 @default.
• W2017656419 cites W2089516734 @default.
• W2017656419 cites W2092169518 @default.
• W2017656419 cites W2093350983 @default.
• W2017656419 cites W2094498976 @default.
• W2017656419 cites W2119071616 @default.
• W2017656419 cites W2139553350 @default.
• W2017656419 cites W2147659564 @default.
• W2017656419 cites W2163443690 @default.
• W2017656419 cites W2166987543 @default.
• W2017656419 cites W238861083 @default.
• W2017656419 doi "https://doi.org/10.1007/s10545-010-9181-8" @default.
• W2017656419 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20721692" @default.
• W2017656419 hasPublicationYear "2010" @default.
• W2017656419 type Work @default.
• W2017656419 sameAs 2017656419 @default.
• W2017656419 citedByCount "33" @default.
• W2017656419 countsByYear W20176564192012 @default.
• W2017656419 countsByYear W20176564192014 @default.
• W2017656419 countsByYear W20176564192017 @default.
• W2017656419 countsByYear W20176564192018 @default.
• W2017656419 countsByYear W20176564192019 @default.
• W2017656419 countsByYear W20176564192020 @default.
• W2017656419 countsByYear W20176564192021 @default.
• W2017656419 countsByYear W20176564192022 @default.
• W2017656419 countsByYear W20176564192023 @default.
• W2017656419 crossrefType "journal-article" @default.
• W2017656419 hasAuthorship W2017656419A5003591532 @default.
• W2017656419 hasAuthorship W2017656419A5004484109 @default.
• W2017656419 hasAuthorship W2017656419A5007446040 @default.
• W2017656419 hasAuthorship W2017656419A5010806545 @default.
• W2017656419 hasAuthorship W2017656419A5042411531 @default.
• W2017656419 hasAuthorship W2017656419A5050350028 @default.
• W2017656419 hasAuthorship W2017656419A5052710030 @default.
• W2017656419 hasAuthorship W2017656419A5075408328 @default.
• W2017656419 hasAuthorship W2017656419A5079075787 @default.
• W2017656419 hasConcept C126322002 @default.
• W2017656419 hasConcept C134018914 @default.
• W2017656419 hasConcept C185592680 @default.
• W2017656419 hasConcept C187212893 @default.
• W2017656419 hasConcept C2776169613 @default.
• W2017656419 hasConcept C2776597655 @default.
• W2017656419 hasConcept C2776938444 @default.
• W2017656419 hasConcept C2777767042 @default.
• W2017656419 hasConcept C2778038050 @default.
• W2017656419 hasConcept C2908647359 @default.
• W2017656419 hasConcept C43617362 @default.
• W2017656419 hasConcept C71924100 @default.
• W2017656419 hasConcept C99454951 @default.
• W2017656419 hasConceptScore W2017656419C126322002 @default.
• W2017656419 hasConceptScore W2017656419C134018914 @default.
• W2017656419 hasConceptScore W2017656419C185592680 @default.
• W2017656419 hasConceptScore W2017656419C187212893 @default.
• W2017656419 hasConceptScore W2017656419C2776169613 @default.
• W2017656419 hasConceptScore W2017656419C2776597655 @default.
• W2017656419 hasConceptScore W2017656419C2776938444 @default.
• W2017656419 hasConceptScore W2017656419C2777767042 @default.
• W2017656419 hasConceptScore W2017656419C2778038050 @default.
• W2017656419 hasConceptScore W2017656419C2908647359 @default.
• W2017656419 hasConceptScore W2017656419C43617362 @default.
• W2017656419 hasConceptScore W2017656419C71924100 @default.
• W2017656419 hasConceptScore W2017656419C99454951 @default.
• W2017656419 hasIssue "S3" @default.
• W2017656419 hasLocation W20176564191 @default.
• W2017656419 hasLocation W20176564192 @default.
• W2017656419 hasOpenAccess W2017656419 @default.
• W2017656419 hasPrimaryLocation W20176564191 @default.
• W2017656419 hasRelatedWork W2017656419 @default.
• W2017656419 hasRelatedWork W2030685863 @default.
• W2017656419 hasRelatedWork W2033248558 @default.
• W2017656419 hasRelatedWork W2037685764 @default.
• W2017656419 hasRelatedWork W2066590152 @default.
• W2017656419 hasRelatedWork W2068072549 @default.
• W2017656419 hasRelatedWork W2136275852 @default.

• next