Matches in SemOpenAlex for { <https://semopenalex.org/work/W3144098112> ?p ?o ?g. }
Showing items 1 to 99 of
99
with 100 items per page.
- W3144098112 endingPage "129" @default.
- W3144098112 startingPage "125" @default.
- W3144098112 abstract "Inborn errors of metabolism (IEMs) are a group of rare genetic disorders which, when emerging later in life, are often characterized by neuropsychiatric manifestations including psychosis. This study aimed to determine whether it would be useful to screen patients presenting with a psychotic disorder for IEMs by a single blood sample using Next Generation Sequencing (NGS), in order to detect rare, treatable causes of psychotic disorders. Blood was drawn from 60 patients with a psychotic disorder, with a duration of illness of less than 5 years. Blood samples were screened for 67 genes using NGS (Illumina® MiSeq sequencing technique). The results were compared to the human reference genome (GoNL, n = 498). The identified variants were classified according to the ACMG classification. For the psychotic patients, 6 variants of a likely pathogenic (class 4, n = 2) or pathogenic (class 5, n = 4) origin were found. As all variants were heterozygous, no patients were considered to be affected by an IEM. For the GoNL control group, 73 variants of a likely pathogenic (class 4, n = 31) or pathogenic (class 5, n = 42) origin were found. All of these found variants were heterozygous. Therefore, these individuals from the control group were considered to be a carrier only. Thus, no patients were identified to have an IEM as an underlying disease using this approach. However, NGS may be useful to detect variants of genes associated with IEMs in an enriched subgroup of psychotic patients." @default.
- W3144098112 created "2021-04-13" @default.
- W3144098112 creator A5003422914 @default.
- W3144098112 creator A5013768374 @default.
- W3144098112 creator A5023523511 @default.
- W3144098112 creator A5026053805 @default.
- W3144098112 creator A5028212472 @default.
- W3144098112 creator A5032703321 @default.
- W3144098112 creator A5063281483 @default.
- W3144098112 date "2021-06-01" @default.
- W3144098112 modified "2023-10-18" @default.
- W3144098112 title "Screening for inborn errors of metabolism in psychotic patients using Next Generation Sequencing" @default.
- W3144098112 cites W1544090384 @default.
- W3144098112 cites W1965204257 @default.
- W3144098112 cites W1989319583 @default.
- W3144098112 cites W1993966353 @default.
- W3144098112 cites W1998309308 @default.
- W3144098112 cites W2005975366 @default.
- W3144098112 cites W2019410645 @default.
- W3144098112 cites W2024251019 @default.
- W3144098112 cites W2042324812 @default.
- W3144098112 cites W2051978340 @default.
- W3144098112 cites W2053384196 @default.
- W3144098112 cites W2059137763 @default.
- W3144098112 cites W2066182761 @default.
- W3144098112 cites W2075533625 @default.
- W3144098112 cites W2084670219 @default.
- W3144098112 cites W2105098833 @default.
- W3144098112 cites W2140606211 @default.
- W3144098112 cites W2165204916 @default.
- W3144098112 cites W2170572612 @default.
- W3144098112 cites W2400968936 @default.
- W3144098112 cites W2538091636 @default.
- W3144098112 cites W2588075520 @default.
- W3144098112 cites W2604441273 @default.
- W3144098112 cites W2607135028 @default.
- W3144098112 cites W2794622707 @default.
- W3144098112 cites W2955497159 @default.
- W3144098112 cites W3129183242 @default.
- W3144098112 cites W4235056250 @default.
- W3144098112 doi "https://doi.org/10.1016/j.jpsychires.2021.03.060" @default.
- W3144098112 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33848968" @default.
- W3144098112 hasPublicationYear "2021" @default.
- W3144098112 type Work @default.
- W3144098112 sameAs 3144098112 @default.
- W3144098112 citedByCount "1" @default.
- W3144098112 countsByYear W31440981122023 @default.
- W3144098112 crossrefType "journal-article" @default.
- W3144098112 hasAuthorship W3144098112A5003422914 @default.
- W3144098112 hasAuthorship W3144098112A5013768374 @default.
- W3144098112 hasAuthorship W3144098112A5023523511 @default.
- W3144098112 hasAuthorship W3144098112A5026053805 @default.
- W3144098112 hasAuthorship W3144098112A5028212472 @default.
- W3144098112 hasAuthorship W3144098112A5032703321 @default.
- W3144098112 hasAuthorship W3144098112A5063281483 @default.
- W3144098112 hasBestOaLocation W31440981121 @default.
- W3144098112 hasConcept C104317684 @default.
- W3144098112 hasConcept C118552586 @default.
- W3144098112 hasConcept C127716648 @default.
- W3144098112 hasConcept C16671776 @default.
- W3144098112 hasConcept C2776412080 @default.
- W3144098112 hasConcept C2779727114 @default.
- W3144098112 hasConcept C54355233 @default.
- W3144098112 hasConcept C60644358 @default.
- W3144098112 hasConcept C71924100 @default.
- W3144098112 hasConcept C86803240 @default.
- W3144098112 hasConceptScore W3144098112C104317684 @default.
- W3144098112 hasConceptScore W3144098112C118552586 @default.
- W3144098112 hasConceptScore W3144098112C127716648 @default.
- W3144098112 hasConceptScore W3144098112C16671776 @default.
- W3144098112 hasConceptScore W3144098112C2776412080 @default.
- W3144098112 hasConceptScore W3144098112C2779727114 @default.
- W3144098112 hasConceptScore W3144098112C54355233 @default.
- W3144098112 hasConceptScore W3144098112C60644358 @default.
- W3144098112 hasConceptScore W3144098112C71924100 @default.
- W3144098112 hasConceptScore W3144098112C86803240 @default.
- W3144098112 hasFunder F4320338282 @default.
- W3144098112 hasLocation W31440981121 @default.
- W3144098112 hasLocation W31440981122 @default.
- W3144098112 hasLocation W31440981123 @default.
- W3144098112 hasOpenAccess W3144098112 @default.
- W3144098112 hasPrimaryLocation W31440981121 @default.
- W3144098112 hasRelatedWork W1476030569 @default.
- W3144098112 hasRelatedWork W1651960940 @default.
- W3144098112 hasRelatedWork W1967987399 @default.
- W3144098112 hasRelatedWork W2009284198 @default.
- W3144098112 hasRelatedWork W2049986482 @default.
- W3144098112 hasRelatedWork W2487278956 @default.
- W3144098112 hasRelatedWork W2946514603 @default.
- W3144098112 hasRelatedWork W2979685002 @default.
- W3144098112 hasRelatedWork W4211108626 @default.
- W3144098112 hasRelatedWork W2183975142 @default.
- W3144098112 hasVolume "138" @default.
- W3144098112 isParatext "false" @default.
- W3144098112 isRetracted "false" @default.
- W3144098112 magId "3144098112" @default.
- W3144098112 workType "article" @default.