Matches in SemOpenAlex for { <https://semopenalex.org/work/W4376875685> ?p ?o ?g. }
- W4376875685 abstract "This consensus statement by a panel of neurology experts aimed to provide a practical and implementable guidance document to assist clinicians with the best clinical practice in terms of diagnosis, treatment, and monitoring of late-onset Pompe disease (LOPD). The participating experts consider the clinical suspicion of LOPD by the physician to be of utmost importance in the prevention of diagnostic and therapeutic delay in LOPD patients. A diagnostic algorithm is proposed to facilitate the diagnosis of LOPD in patients presenting with unexplained proximal/axial weakness (with or without respiratory symptoms) or restrictive respiratory insufficiency with hyperCKemia and/or exercise intolerance as the red flag symptoms/signs that raise the index of suspicion for LOPD diagnosis. The diagnosis is based on the subsequent use of dried blood spot (DBS) assay, and the DBS assay can be confirmed by acid alpha-glucosidase (GAA) tissue analysis in leukocytes, fibroblasts, or muscle fibers and/or genetic mutation analysis. Accordingly, experts consider increased awareness among physicians about potential presenting characteristics with a high index of suspicion for LOPD to be crucial to suspect and consider LOPD in the differential diagnosis, while strongly suggesting the use of a diagnostic algorithm combined with DBS assay and confirmatory tests in the timely diagnosis of LOPD and implementation of best practice patterns." @default.
- W4376875685 created "2023-05-18" @default.
- W4376875685 creator A5027032117 @default.
- W4376875685 creator A5028251051 @default.
- W4376875685 creator A5034312452 @default.
- W4376875685 creator A5040840266 @default.
- W4376875685 creator A5056990662 @default.
- W4376875685 creator A5070511816 @default.
- W4376875685 creator A5073187444 @default.
- W4376875685 creator A5078959602 @default.
- W4376875685 date "2023-05-17" @default.
- W4376875685 modified "2023-10-02" @default.
- W4376875685 title "Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective" @default.
- W4376875685 cites W1597363140 @default.
- W4376875685 cites W1683478682 @default.
- W4376875685 cites W1971157850 @default.
- W4376875685 cites W1979458494 @default.
- W4376875685 cites W1979707852 @default.
- W4376875685 cites W1980761371 @default.
- W4376875685 cites W1994468264 @default.
- W4376875685 cites W1999911790 @default.
- W4376875685 cites W2009000135 @default.
- W4376875685 cites W2011982052 @default.
- W4376875685 cites W2013045273 @default.
- W4376875685 cites W2027671694 @default.
- W4376875685 cites W2029355337 @default.
- W4376875685 cites W2045626394 @default.
- W4376875685 cites W2049477048 @default.
- W4376875685 cites W2073153007 @default.
- W4376875685 cites W2080352648 @default.
- W4376875685 cites W2081110699 @default.
- W4376875685 cites W2095643828 @default.
- W4376875685 cites W2096277836 @default.
- W4376875685 cites W2111298986 @default.
- W4376875685 cites W2119013995 @default.
- W4376875685 cites W2128968259 @default.
- W4376875685 cites W2131480154 @default.
- W4376875685 cites W2134392644 @default.
- W4376875685 cites W2135690636 @default.
- W4376875685 cites W2145986851 @default.
- W4376875685 cites W2152341723 @default.
- W4376875685 cites W2154167928 @default.
- W4376875685 cites W2155934793 @default.
- W4376875685 cites W2163437022 @default.
- W4376875685 cites W2164453552 @default.
- W4376875685 cites W2164641510 @default.
- W4376875685 cites W2166508127 @default.
- W4376875685 cites W2167525501 @default.
- W4376875685 cites W2268265677 @default.
- W4376875685 cites W2415057947 @default.
- W4376875685 cites W2416755306 @default.
- W4376875685 cites W2469663448 @default.
- W4376875685 cites W2534431402 @default.
- W4376875685 cites W2548922080 @default.
- W4376875685 cites W2561610337 @default.
- W4376875685 cites W2611287306 @default.
- W4376875685 cites W2612563103 @default.
- W4376875685 cites W2774511679 @default.
- W4376875685 cites W2775886535 @default.
- W4376875685 cites W2794408542 @default.
- W4376875685 cites W2916044494 @default.
- W4376875685 cites W2933278663 @default.
- W4376875685 cites W2946660664 @default.
- W4376875685 cites W2959086729 @default.
- W4376875685 cites W2960467616 @default.
- W4376875685 cites W2962453127 @default.
- W4376875685 cites W2981219681 @default.
- W4376875685 cites W3000237919 @default.
- W4376875685 cites W3037842393 @default.
- W4376875685 cites W3091907106 @default.
- W4376875685 cites W3092012321 @default.
- W4376875685 cites W3155248610 @default.
- W4376875685 cites W3159165703 @default.
- W4376875685 cites W3211462560 @default.
- W4376875685 cites W3213397729 @default.
- W4376875685 cites W3214756615 @default.
- W4376875685 doi "https://doi.org/10.3389/fneur.2023.1095134" @default.
- W4376875685 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37265469" @default.
- W4376875685 hasPublicationYear "2023" @default.
- W4376875685 type Work @default.
- W4376875685 citedByCount "0" @default.
- W4376875685 crossrefType "journal-article" @default.
- W4376875685 hasAuthorship W4376875685A5027032117 @default.
- W4376875685 hasAuthorship W4376875685A5028251051 @default.
- W4376875685 hasAuthorship W4376875685A5034312452 @default.
- W4376875685 hasAuthorship W4376875685A5040840266 @default.
- W4376875685 hasAuthorship W4376875685A5056990662 @default.
- W4376875685 hasAuthorship W4376875685A5070511816 @default.
- W4376875685 hasAuthorship W4376875685A5073187444 @default.
- W4376875685 hasAuthorship W4376875685A5078959602 @default.
- W4376875685 hasBestOaLocation W43768756851 @default.
- W4376875685 hasConcept C118552586 @default.
- W4376875685 hasConcept C126322002 @default.
- W4376875685 hasConcept C142724271 @default.
- W4376875685 hasConcept C16568411 @default.
- W4376875685 hasConcept C177713679 @default.
- W4376875685 hasConcept C187212893 @default.
- W4376875685 hasConcept C2779134260 @default.
- W4376875685 hasConcept C2780801072 @default.
- W4376875685 hasConcept C534262118 @default.