FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2945011332> ?p ?o ?g. }

• W2945011332 endingPage "2551" @default.
• W2945011332 startingPage "2543" @default.
• W2945011332 abstract "To characterize clinical characteristics and genotypes of patients in the ADVANCE study of 4000 L-scale alglucosidase alfa (NCT01526785), the largest prospective United States Pompe disease cohort to date.Patients aged ≥1 year with confirmed Pompe disease previously receiving 160 L alglucosidase alfa were eligible. GAA genotypes were determined before/at enrollment. Baseline assessments included histories/physical exams, Gross Motor Function Measure-88 (GMFM-88), pulmonary function tests, and cardiac assessments.Of 113 enrollees (60 male/53 female) aged 1-18 years, 87 had infantile-onset Pompe disease (IOPD) and 26 late-onset (LOPD). One hundred eight enrollees with GAA genotypes had 215 pathogenic variants (220 including combinations): 118 missense (4 combinations), 23 splice, 35 nonsense, 34 insertions/deletions, 9 duplications (1 combination), 6 other; c.2560C>T (n = 23), c.-32-13T>G (n = 13), and c.525delT (n = 12) were most common. Four patients had previously unpublished variants, and 14/83 (17%) genotyped IOPD patients were cross-reactive immunological material-negative. All IOPD and 6/26 LOPD patients had cardiac involvement, all without c.-32-13T>G. Thirty-two (26 IOPD, 6 LOPD) were invasively ventilated. GMFM-88 total %scores (mean ± SD, median, range): overall 46.3 ± 33.0% (47.9%, 0.0-100.0%), IOPD 41.6 ± 31.64% (38.9%, 0.0-99.7%), LOPD: 61.8 ± 33.2 (70.9%, 0.0-100.0%).ADVANCE, a uniformly assessed cohort comprising most US children and adolescents with treated Pompe disease, expands understanding of the phenotype and observed variants in the United States." @default.
• W2945011332 created "2019-05-29" @default.
• W2945011332 creator A5017296127 @default.
• W2945011332 creator A5028989065 @default.
• W2945011332 creator A5037775852 @default.
• W2945011332 creator A5050518752 @default.
• W2945011332 creator A5054035846 @default.
• W2945011332 creator A5059803854 @default.
• W2945011332 creator A5066721249 @default.
• W2945011332 creator A5068131146 @default.
• W2945011332 creator A5073395129 @default.
• W2945011332 creator A5076759352 @default.
• W2945011332 creator A5080241842 @default.
• W2945011332 creator A5080584074 @default.
• W2945011332 creator A5083231545 @default.
• W2945011332 creator A5087761286 @default.
• W2945011332 creator A5087972203 @default.
• W2945011332 creator A5091515649 @default.
• W2945011332 date "2019-11-01" @default.
• W2945011332 modified "2023-10-17" @default.
• W2945011332 title "Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease" @default.
• W2945011332 cites W1936012709 @default.
• W2945011332 cites W202703229 @default.
• W2945011332 cites W2080352648 @default.
• W2945011332 cites W2754579193 @default.
• W2945011332 doi "https://doi.org/10.1038/s41436-019-0527-9" @default.
• W2945011332 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8076035" @default.
• W2945011332 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31086307" @default.
• W2945011332 hasPublicationYear "2019" @default.
• W2945011332 type Work @default.
• W2945011332 sameAs 2945011332 @default.
• W2945011332 citedByCount "6" @default.
• W2945011332 countsByYear W29450113322021 @default.
• W2945011332 countsByYear W29450113322022 @default.
• W2945011332 countsByYear W29450113322023 @default.
• W2945011332 crossrefType "journal-article" @default.
• W2945011332 hasAuthorship W2945011332A5017296127 @default.
• W2945011332 hasAuthorship W2945011332A5028989065 @default.
• W2945011332 hasAuthorship W2945011332A5037775852 @default.
• W2945011332 hasAuthorship W2945011332A5050518752 @default.
• W2945011332 hasAuthorship W2945011332A5054035846 @default.
• W2945011332 hasAuthorship W2945011332A5059803854 @default.
• W2945011332 hasAuthorship W2945011332A5066721249 @default.
• W2945011332 hasAuthorship W2945011332A5068131146 @default.
• W2945011332 hasAuthorship W2945011332A5073395129 @default.
• W2945011332 hasAuthorship W2945011332A5076759352 @default.
• W2945011332 hasAuthorship W2945011332A5080241842 @default.
• W2945011332 hasAuthorship W2945011332A5080584074 @default.
• W2945011332 hasAuthorship W2945011332A5083231545 @default.
• W2945011332 hasAuthorship W2945011332A5087761286 @default.
• W2945011332 hasAuthorship W2945011332A5087972203 @default.
• W2945011332 hasAuthorship W2945011332A5091515649 @default.
• W2945011332 hasBestOaLocation W29450113321 @default.
• W2945011332 hasConcept C104317684 @default.
• W2945011332 hasConcept C126322002 @default.
• W2945011332 hasConcept C127716648 @default.
• W2945011332 hasConcept C135763542 @default.
• W2945011332 hasConcept C187212893 @default.
• W2945011332 hasConcept C188816634 @default.
• W2945011332 hasConcept C2776735236 @default.
• W2945011332 hasConcept C2779134260 @default.
• W2945011332 hasConcept C2779969927 @default.
• W2945011332 hasConcept C3020646490 @default.
• W2945011332 hasConcept C54355233 @default.
• W2945011332 hasConcept C71924100 @default.
• W2945011332 hasConcept C72563966 @default.
• W2945011332 hasConcept C75563809 @default.
• W2945011332 hasConcept C86803240 @default.
• W2945011332 hasConceptScore W2945011332C104317684 @default.
• W2945011332 hasConceptScore W2945011332C126322002 @default.
• W2945011332 hasConceptScore W2945011332C127716648 @default.
• W2945011332 hasConceptScore W2945011332C135763542 @default.
• W2945011332 hasConceptScore W2945011332C187212893 @default.
• W2945011332 hasConceptScore W2945011332C188816634 @default.
• W2945011332 hasConceptScore W2945011332C2776735236 @default.
• W2945011332 hasConceptScore W2945011332C2779134260 @default.
• W2945011332 hasConceptScore W2945011332C2779969927 @default.
• W2945011332 hasConceptScore W2945011332C3020646490 @default.
• W2945011332 hasConceptScore W2945011332C54355233 @default.
• W2945011332 hasConceptScore W2945011332C71924100 @default.
• W2945011332 hasConceptScore W2945011332C72563966 @default.
• W2945011332 hasConceptScore W2945011332C75563809 @default.
• W2945011332 hasConceptScore W2945011332C86803240 @default.
• W2945011332 hasFunder F4320333587 @default.
• W2945011332 hasIssue "11" @default.
• W2945011332 hasLocation W29450113321 @default.
• W2945011332 hasLocation W29450113322 @default.
• W2945011332 hasLocation W29450113323 @default.
• W2945011332 hasLocation W29450113324 @default.
• W2945011332 hasOpenAccess W2945011332 @default.
• W2945011332 hasPrimaryLocation W29450113321 @default.
• W2945011332 hasRelatedWork W13837631 @default.
• W2945011332 hasRelatedWork W1426034291 @default.
• W2945011332 hasRelatedWork W2023547102 @default.
• W2945011332 hasRelatedWork W2083064819 @default.
• W2945011332 hasRelatedWork W2324259403 @default.
• W2945011332 hasRelatedWork W2410793959 @default.
• W2945011332 hasRelatedWork W3018589774 @default.

• next