FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4296222780> ?p ?o ?g. }

• W4296222780 endingPage "76" @default.
• W4296222780 startingPage "70" @default.
• W4296222780 abstract "Cerebral creatine deficiency syndromes (CCDS) are disorders affecting creatine synthesis or transport. Several methods have been developed to measure creatine and guanidinoacetate (GAA) in different body fluids including methods based on gas chromatography-mass spectrometry (GC-MS) and High-pressure liquid chromatography mass spectrometry (HPLC-MS). The diagnosis of CCDS is then confirmed by sequencing of creatine biosynthesis genes guanidinoacetate methyltransferase (GAMT) and Arginine: glycine amidinotransferase (GATM) and creatine transporter gene solute carrier family 6 member 8 (SLC6A8) or by functional enzymatic assay. The aim of the current study was to find the most reliable and accurate screening method for CCDS by comparing methods using Nuclear Magnetic Resonance spectroscopy (NMR), GC-MS and HPLC-MS. Additionally, this study was performed to estimate the prevalence of CCDS in a cohort of Egyptian patients and potentially to discover novel variants.The study was conducted on 150 subjects with clinical signs and symptoms consistent with CCDS. Metabolic profiling of urine samples was performed using three techniques: 1) GC-MS 2) Ultra high-pressure (or performance) liquid chromatography - Tandem Mass Spectrometry (UHPLC- MS/MS) and 3) NMR.The linearity of peak areas for creatine and GAA by UHPLC-MS/MS and NMR covered and exceeded the ranges normally found in urine. The limit of quantification and the inter-day precision results for creatine and GAA were more robust by UHPLC-MS/MS than NMR. Ten cases were identified as being positive for CCDS by our analytical approaches and underwent next generation sequencing (NGS) for GAMT, GATM and SLC6A8 genes. NGS was performed and confirmed one patient with one likely Pathogenic variant in GAMT gene: (NC_000019.10:g.1401317C > G, NP_000147.1:p.Ala54Pro). Additionally, we describe four novel intronic variants in the GATM gene: c.1043-357del and c.1043-357_1043-356insT, and were predicted to activate cryptic acceptor site with potential alteration of splicing, c.979-227G > A was found to significantly alter the Exon Splice Enhancer (ESE) xon Splice Silencer (ESS) motifs ratio and c.1042 + 262del which was found to have no implications on splicing.Both UHPLC-MS/MS and NMR spectroscopy are comparable to GC-MS in screening for CCDS. Nonetheless, the UHPLC-MS/MS method had better performance than NMR spectroscopy. Additionally, Sequencing of the full length of GATM, GAMT, and SLC6A8 genes is needed to identify intronic variants that could cause CCDS via affecting splice sites." @default.
• W4296222780 created "2022-09-18" @default.
• W4296222780 creator A5000241606 @default.
• W4296222780 creator A5002789877 @default.
• W4296222780 creator A5045085495 @default.
• W4296222780 creator A5076795620 @default.
• W4296222780 creator A5083760892 @default.
• W4296222780 date "2022-11-01" @default.
• W4296222780 modified "2023-09-28" @default.
• W4296222780 title "Creatine Deficiency Syndromes: Comparison of Screening Methods and Characterization of Four Novel Intronic Variants" @default.
• W4296222780 cites W184861672 @default.
• W4296222780 cites W1852988843 @default.
• W4296222780 cites W1957050290 @default.
• W4296222780 cites W1966469433 @default.
• W4296222780 cites W1980070246 @default.
• W4296222780 cites W1987456332 @default.
• W4296222780 cites W2023608174 @default.
• W4296222780 cites W2027428988 @default.
• W4296222780 cites W2027948433 @default.
• W4296222780 cites W2041358155 @default.
• W4296222780 cites W2047069195 @default.
• W4296222780 cites W2051779095 @default.
• W4296222780 cites W2051978340 @default.
• W4296222780 cites W2058676949 @default.
• W4296222780 cites W2064199090 @default.
• W4296222780 cites W2066846767 @default.
• W4296222780 cites W2072374346 @default.
• W4296222780 cites W2094191736 @default.
• W4296222780 cites W2137959371 @default.
• W4296222780 cites W2473064663 @default.
• W4296222780 cites W2569070231 @default.
• W4296222780 cites W2921048204 @default.
• W4296222780 cites W2944003561 @default.
• W4296222780 cites W2949857618 @default.
• W4296222780 cites W2976422566 @default.
• W4296222780 doi "https://doi.org/10.1016/j.cca.2022.09.005" @default.
• W4296222780 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36130657" @default.
• W4296222780 hasPublicationYear "2022" @default.
• W4296222780 type Work @default.
• W4296222780 citedByCount "0" @default.
• W4296222780 crossrefType "journal-article" @default.
• W4296222780 hasAuthorship W4296222780A5000241606 @default.
• W4296222780 hasAuthorship W4296222780A5002789877 @default.
• W4296222780 hasAuthorship W4296222780A5045085495 @default.
• W4296222780 hasAuthorship W4296222780A5076795620 @default.
• W4296222780 hasAuthorship W4296222780A5083760892 @default.
• W4296222780 hasConcept C162356407 @default.
• W4296222780 hasConcept C179998833 @default.
• W4296222780 hasConcept C185592680 @default.
• W4296222780 hasConcept C2779896295 @default.
• W4296222780 hasConcept C2780026642 @default.
• W4296222780 hasConcept C31827203 @default.
• W4296222780 hasConcept C43617362 @default.
• W4296222780 hasConcept C55493867 @default.
• W4296222780 hasConceptScore W4296222780C162356407 @default.
• W4296222780 hasConceptScore W4296222780C179998833 @default.
• W4296222780 hasConceptScore W4296222780C185592680 @default.
• W4296222780 hasConceptScore W4296222780C2779896295 @default.
• W4296222780 hasConceptScore W4296222780C2780026642 @default.
• W4296222780 hasConceptScore W4296222780C31827203 @default.
• W4296222780 hasConceptScore W4296222780C43617362 @default.
• W4296222780 hasConceptScore W4296222780C55493867 @default.
• W4296222780 hasLocation W42962227801 @default.
• W4296222780 hasLocation W42962227802 @default.
• W4296222780 hasOpenAccess W4296222780 @default.
• W4296222780 hasPrimaryLocation W42962227801 @default.
• W4296222780 hasRelatedWork W118183763 @default.
• W4296222780 hasRelatedWork W1970888742 @default.
• W4296222780 hasRelatedWork W2008587079 @default.
• W4296222780 hasRelatedWork W2008727242 @default.
• W4296222780 hasRelatedWork W2012905376 @default.
• W4296222780 hasRelatedWork W2020742672 @default.
• W4296222780 hasRelatedWork W2031508767 @default.
• W4296222780 hasRelatedWork W2035747744 @default.
• W4296222780 hasRelatedWork W2048027784 @default.
• W4296222780 hasRelatedWork W2061879738 @default.
• W4296222780 hasVolume "536" @default.
• W4296222780 isParatext "false" @default.
• W4296222780 isRetracted "false" @default.
• W4296222780 workType "article" @default.