FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3196290073> ?p ?o ?g. }

• W3196290073 endingPage "3868" @default.
• W3196290073 startingPage "3868" @default.
• W3196290073 abstract "Measurement of alpha-glucosidase activity on dried blood spots has been the main method to screen for Pompe disease, but a paradigm shift has been observed in recent years with the incorporation of gene panels and exome sequencing in molecular diagnostic laboratories. An 89-gene panel has been available to Canadian physicians since 2017 and was analyzed in 2030 patients with a suspected muscle disease. Acid alpha-glucosidase activity was measured in parallel in dried blood spots from 1430 patients. Pompe disease was diagnosed in 14 patients, representing 0.69% of our cohort. In 7 other patients, low enzyme activities overlapping those of Pompe disease cases were attributable to the presence of pseudodeficiency alleles. Only two other patients had enzymatic activity in the Pompe disease range, and a single heterozygous pathogenic variant was identified. It is possible that a second variant could have been missed; we suggest that RNA analysis should be considered in such cases. With gene panel testing increasingly being performed as a first-tier analysis of patients with suspected muscle disorders, our study supports the relevance of performing reflex enzymatic activity assay in selected patients, such as those with a single GAA variant identified and those in whom the observed genotype is of uncertain clinical significance." @default.
• W3196290073 created "2021-09-13" @default.
• W3196290073 creator A5003649136 @default.
• W3196290073 creator A5011142558 @default.
• W3196290073 creator A5037993771 @default.
• W3196290073 creator A5049105878 @default.
• W3196290073 creator A5064417697 @default.
• W3196290073 creator A5064634295 @default.
• W3196290073 creator A5086237620 @default.
• W3196290073 creator A5086251854 @default.
• W3196290073 date "2021-08-28" @default.
• W3196290073 modified "2023-10-17" @default.
• W3196290073 title "Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots" @default.
• W3196290073 cites W1872500596 @default.
• W3196290073 cites W1992387789 @default.
• W3196290073 cites W1998670393 @default.
• W3196290073 cites W2039207316 @default.
• W3196290073 cites W2041769721 @default.
• W3196290073 cites W2045741878 @default.
• W3196290073 cites W2051386832 @default.
• W3196290073 cites W2051978340 @default.
• W3196290073 cites W2073153007 @default.
• W3196290073 cites W2077277662 @default.
• W3196290073 cites W2095643828 @default.
• W3196290073 cites W2096264344 @default.
• W3196290073 cites W2159490726 @default.
• W3196290073 cites W2265685560 @default.
• W3196290073 cites W2338102768 @default.
• W3196290073 cites W2520062272 @default.
• W3196290073 cites W2527991814 @default.
• W3196290073 cites W2561610337 @default.
• W3196290073 cites W2599703700 @default.
• W3196290073 cites W2730977878 @default.
• W3196290073 cites W2766672351 @default.
• W3196290073 cites W2768207382 @default.
• W3196290073 cites W2796915054 @default.
• W3196290073 cites W2888016352 @default.
• W3196290073 cites W2897067527 @default.
• W3196290073 cites W2902198013 @default.
• W3196290073 cites W2937350624 @default.
• W3196290073 cites W2945930154 @default.
• W3196290073 cites W2964169593 @default.
• W3196290073 cites W3005118876 @default.
• W3196290073 cites W3010931658 @default.
• W3196290073 cites W3012413712 @default.
• W3196290073 cites W3014552654 @default.
• W3196290073 cites W3014924448 @default.
• W3196290073 cites W3034462793 @default.
• W3196290073 cites W3094908736 @default.
• W3196290073 cites W3103661425 @default.
• W3196290073 cites W93804728 @default.
• W3196290073 doi "https://doi.org/10.3390/jcm10173868" @default.
• W3196290073 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8432085" @default.
• W3196290073 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34501319" @default.
• W3196290073 hasPublicationYear "2021" @default.
• W3196290073 type Work @default.
• W3196290073 sameAs 3196290073 @default.
• W3196290073 citedByCount "4" @default.
• W3196290073 countsByYear W31962900732022 @default.
• W3196290073 countsByYear W31962900732023 @default.
• W3196290073 crossrefType "journal-article" @default.
• W3196290073 hasAuthorship W3196290073A5003649136 @default.
• W3196290073 hasAuthorship W3196290073A5011142558 @default.
• W3196290073 hasAuthorship W3196290073A5037993771 @default.
• W3196290073 hasAuthorship W3196290073A5049105878 @default.
• W3196290073 hasAuthorship W3196290073A5064417697 @default.
• W3196290073 hasAuthorship W3196290073A5064634295 @default.
• W3196290073 hasAuthorship W3196290073A5086237620 @default.
• W3196290073 hasAuthorship W3196290073A5086251854 @default.
• W3196290073 hasBestOaLocation W31962900731 @default.
• W3196290073 hasConcept C104317684 @default.
• W3196290073 hasConcept C126322002 @default.
• W3196290073 hasConcept C135763542 @default.
• W3196290073 hasConcept C180754005 @default.
• W3196290073 hasConcept C185592680 @default.
• W3196290073 hasConcept C2776597655 @default.
• W3196290073 hasConcept C2776735236 @default.
• W3196290073 hasConcept C2779134260 @default.
• W3196290073 hasConcept C2779969927 @default.
• W3196290073 hasConcept C3017516299 @default.
• W3196290073 hasConcept C43617362 @default.
• W3196290073 hasConcept C54355233 @default.
• W3196290073 hasConcept C71924100 @default.
• W3196290073 hasConcept C86803240 @default.
• W3196290073 hasConceptScore W3196290073C104317684 @default.
• W3196290073 hasConceptScore W3196290073C126322002 @default.
• W3196290073 hasConceptScore W3196290073C135763542 @default.
• W3196290073 hasConceptScore W3196290073C180754005 @default.
• W3196290073 hasConceptScore W3196290073C185592680 @default.
• W3196290073 hasConceptScore W3196290073C2776597655 @default.
• W3196290073 hasConceptScore W3196290073C2776735236 @default.
• W3196290073 hasConceptScore W3196290073C2779134260 @default.
• W3196290073 hasConceptScore W3196290073C2779969927 @default.
• W3196290073 hasConceptScore W3196290073C3017516299 @default.
• W3196290073 hasConceptScore W3196290073C43617362 @default.
• W3196290073 hasConceptScore W3196290073C54355233 @default.
• W3196290073 hasConceptScore W3196290073C71924100 @default.
• W3196290073 hasConceptScore W3196290073C86803240 @default.

• next