FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4323812912> ?p ?o ?g. }

• W4323812912 endingPage "e0283024" @default.
• W4323812912 startingPage "e0283024" @default.
• W4323812912 abstract "Early diagnosis of severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA), and sickle cell disease (SCD) improves health outcomes by providing a specific treatment before the onset of symptoms. A high-throughput nucleic acid-based method in newborn screening (NBS) has been shown to be fast and cost-effective in the early detection of these diseases. Screening for SCD has been included in Germany’s NBS Program since Fall 2021 and typically requires high-throughput NBS laboratories to adopt analytical platforms that are demanding in terms of instrumentation and personnel. Thus, we developed a combined approach applying a multiplexed quantitative real-time PCR (qPCR) assay for simultaneous SCID, SMA, and 1 st -tier SCD screening, followed by a tandem mass spectrometry (MS/MS) assay for 2 nd -tier SCD screening. DNA is extracted from a 3.2-mm dried blood spot from which we simultaneously quantify T-cell receptor excision circles for SCID screening, identify the homozygous SMN1 exon 7 deletion for SMA screening, and determine the integrity of the DNA extraction through the quantification of a housekeeping gene. In our two-tier SCD screening strategy, our multiplex qPCR identifies samples carrying the HBB : c.20A>T allele that is coding for sickle cell hemoglobin (HbS). Subsequently, the 2 nd tier MS/MS assay is used to distinguish heterozygous HbS/A carriers from samples of patients with homozygous or compound heterozygous SCD. Between July 2021 and March 2022, 96,015 samples were screened by applying the newly implemented assay. The screening revealed two positive SCID cases, while 14 newborns with SMA were detected. Concurrently, the qPCR assay registered HbS in 431 samples which were submitted to 2 nd -tier SCD screening, resulting in 17 HbS/S, five HbS/C, and two HbS/β thalassemia patients. The results of our quadruplex qPCR assay demonstrate a cost-effective and fast approach for a combined screening of three diseases that benefit from nucleic-acid based methods in high-throughput NBS laboratories." @default.
• W4323812912 created "2023-03-11" @default.
• W4323812912 creator A5007940869 @default.
• W4323812912 creator A5035410425 @default.
• W4323812912 creator A5039798427 @default.
• W4323812912 creator A5045061445 @default.
• W4323812912 creator A5057904561 @default.
• W4323812912 creator A5060402060 @default.
• W4323812912 creator A5063735927 @default.
• W4323812912 creator A5085526720 @default.
• W4323812912 creator A5090021273 @default.
• W4323812912 creator A5090027115 @default.
• W4323812912 date "2023-03-10" @default.
• W4323812912 modified "2023-10-06" @default.
• W4323812912 title "A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry" @default.
• W4323812912 cites W1584253018 @default.
• W4323812912 cites W1702490096 @default.
• W4323812912 cites W1986132021 @default.
• W4323812912 cites W2002167881 @default.
• W4323812912 cites W2013744099 @default.
• W4323812912 cites W2028258791 @default.
• W4323812912 cites W2029202665 @default.
• W4323812912 cites W2049192798 @default.
• W4323812912 cites W2060075862 @default.
• W4323812912 cites W2110706362 @default.
• W4323812912 cites W2134678130 @default.
• W4323812912 cites W2137367581 @default.
• W4323812912 cites W2154794733 @default.
• W4323812912 cites W2158549341 @default.
• W4323812912 cites W2295794185 @default.
• W4323812912 cites W2295817381 @default.
• W4323812912 cites W2316743581 @default.
• W4323812912 cites W2557628437 @default.
• W4323812912 cites W2604980933 @default.
• W4323812912 cites W2733659072 @default.
• W4323812912 cites W2733953599 @default.
• W4323812912 cites W2792215491 @default.
• W4323812912 cites W2888410985 @default.
• W4323812912 cites W2902028986 @default.
• W4323812912 cites W2902920801 @default.
• W4323812912 cites W2964370334 @default.
• W4323812912 cites W2978123250 @default.
• W4323812912 cites W2984384256 @default.
• W4323812912 cites W3092848867 @default.
• W4323812912 cites W3119705164 @default.
• W4323812912 cites W3157319433 @default.
• W4323812912 cites W4200363242 @default.
• W4323812912 cites W4307555672 @default.
• W4323812912 cites W4310169435 @default.
• W4323812912 doi "https://doi.org/10.1371/journal.pone.0283024" @default.
• W4323812912 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36897914" @default.
• W4323812912 hasPublicationYear "2023" @default.
• W4323812912 type Work @default.
• W4323812912 citedByCount "1" @default.
• W4323812912 countsByYear W43238129122023 @default.
• W4323812912 crossrefType "journal-article" @default.
• W4323812912 hasAuthorship W4323812912A5007940869 @default.
• W4323812912 hasAuthorship W4323812912A5035410425 @default.
• W4323812912 hasAuthorship W4323812912A5039798427 @default.
• W4323812912 hasAuthorship W4323812912A5045061445 @default.
• W4323812912 hasAuthorship W4323812912A5057904561 @default.
• W4323812912 hasAuthorship W4323812912A5060402060 @default.
• W4323812912 hasAuthorship W4323812912A5063735927 @default.
• W4323812912 hasAuthorship W4323812912A5085526720 @default.
• W4323812912 hasAuthorship W4323812912A5090021273 @default.
• W4323812912 hasAuthorship W4323812912A5090027115 @default.
• W4323812912 hasBestOaLocation W43238129121 @default.
• W4323812912 hasConcept C104317684 @default.
• W4323812912 hasConcept C126322002 @default.
• W4323812912 hasConcept C153911025 @default.
• W4323812912 hasConcept C172680121 @default.
• W4323812912 hasConcept C2776169613 @default.
• W4323812912 hasConcept C2776317666 @default.
• W4323812912 hasConcept C2776597655 @default.
• W4323812912 hasConcept C2778558090 @default.
• W4323812912 hasConcept C2779134260 @default.
• W4323812912 hasConcept C2779234561 @default.
• W4323812912 hasConcept C2781188995 @default.
• W4323812912 hasConcept C49105822 @default.
• W4323812912 hasConcept C54355233 @default.
• W4323812912 hasConcept C60644358 @default.
• W4323812912 hasConcept C71924100 @default.
• W4323812912 hasConcept C78063203 @default.
• W4323812912 hasConcept C86803240 @default.
• W4323812912 hasConcept C90583042 @default.
• W4323812912 hasConceptScore W4323812912C104317684 @default.
• W4323812912 hasConceptScore W4323812912C126322002 @default.
• W4323812912 hasConceptScore W4323812912C153911025 @default.
• W4323812912 hasConceptScore W4323812912C172680121 @default.
• W4323812912 hasConceptScore W4323812912C2776169613 @default.
• W4323812912 hasConceptScore W4323812912C2776317666 @default.
• W4323812912 hasConceptScore W4323812912C2776597655 @default.
• W4323812912 hasConceptScore W4323812912C2778558090 @default.
• W4323812912 hasConceptScore W4323812912C2779134260 @default.
• W4323812912 hasConceptScore W4323812912C2779234561 @default.
• W4323812912 hasConceptScore W4323812912C2781188995 @default.
• W4323812912 hasConceptScore W4323812912C49105822 @default.
• W4323812912 hasConceptScore W4323812912C54355233 @default.

• next