FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W103165701> ?p ?o ?g. }

• W103165701 endingPage "54" @default.
• W103165701 startingPage "45" @default.
• W103165701 abstract "Pompe disease (OMIM 232300), a glycogen storage disorder caused by deficiency in the lysosomal enzyme acid alpha-glucosidase (EC 3.2.1.20), results in weakness and cardiomyopathy in infants affected with the classic form. Although the primary disease manifestations are due to glycogen accumulation in skeletal and cardiac muscle, glycogen also accumulates in a variety of additional tissues. To improve our understanding of disease pathogenesis in long-term survivors, we reviewed postmortem results for three infants with the classic form of Pompe disease. We have observed a number of new complications in long-term survivors of infantile-onset Pompe disease, and we focused this postmortem study on pathological correlates. Findings in survivors include cardiac arrhythmias, which may be related to glycogen accumulation in cardiac conduction tissue; urinary incontinence, likely due to glycogen accumulation in smooth muscle; and refractory errors, possibly related to accumulation in ocular structures. These observations provide potential pathophysiologic correlates for complications in long-term survivors of infantile Pompe disease." @default.
• W103165701 created "2016-06-24" @default.
• W103165701 creator A5002385344 @default.
• W103165701 creator A5037775852 @default.
• W103165701 creator A5087761286 @default.
• W103165701 date "2015-01-01" @default.
• W103165701 modified "2023-09-27" @default.
• W103165701 title "Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease" @default.
• W103165701 cites W1571134769 @default.
• W103165701 cites W1969555423 @default.
• W103165701 cites W1970071642 @default.
• W103165701 cites W1971157850 @default.
• W103165701 cites W1971873142 @default.
• W103165701 cites W1978763551 @default.
• W103165701 cites W1982842294 @default.
• W103165701 cites W2014898828 @default.
• W103165701 cites W2023185926 @default.
• W103165701 cites W2028311695 @default.
• W103165701 cites W2030622261 @default.
• W103165701 cites W2033024694 @default.
• W103165701 cites W2038503044 @default.
• W103165701 cites W2040418347 @default.
• W103165701 cites W2041769721 @default.
• W103165701 cites W2042263456 @default.
• W103165701 cites W2048389673 @default.
• W103165701 cites W2063180780 @default.
• W103165701 cites W2074738037 @default.
• W103165701 cites W2094941645 @default.
• W103165701 cites W2099832987 @default.
• W103165701 cites W2104611938 @default.
• W103165701 cites W2114287977 @default.
• W103165701 cites W2123885266 @default.
• W103165701 cites W2125347222 @default.
• W103165701 cites W2126883313 @default.
• W103165701 cites W2127000082 @default.
• W103165701 cites W2132424400 @default.
• W103165701 cites W2138303610 @default.
• W103165701 cites W2144759789 @default.
• W103165701 cites W2166331967 @default.
• W103165701 cites W2170334297 @default.
• W103165701 cites W2221892061 @default.
• W103165701 cites W2323253185 @default.
• W103165701 cites W2412711513 @default.
• W103165701 cites W52115092 @default.
• W103165701 doi "https://doi.org/10.1007/8904_2015_426" @default.
• W103165701 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4484900" @default.
• W103165701 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25763511" @default.
• W103165701 hasPublicationYear "2015" @default.
• W103165701 type Work @default.
• W103165701 sameAs 103165701 @default.
• W103165701 citedByCount "32" @default.
• W103165701 countsByYear W1031657012016 @default.
• W103165701 countsByYear W1031657012017 @default.
• W103165701 countsByYear W1031657012018 @default.
• W103165701 countsByYear W1031657012019 @default.
• W103165701 countsByYear W1031657012020 @default.
• W103165701 countsByYear W1031657012021 @default.
• W103165701 countsByYear W1031657012022 @default.
• W103165701 countsByYear W1031657012023 @default.
• W103165701 crossrefType "book-chapter" @default.
• W103165701 hasAuthorship W103165701A5002385344 @default.
• W103165701 hasAuthorship W103165701A5037775852 @default.
• W103165701 hasAuthorship W103165701A5087761286 @default.
• W103165701 hasBestOaLocation W1031657012 @default.
• W103165701 hasConcept C10162356 @default.
• W103165701 hasConcept C126322002 @default.
• W103165701 hasConcept C141071460 @default.
• W103165701 hasConcept C142724271 @default.
• W103165701 hasConcept C207886595 @default.
• W103165701 hasConcept C2776418732 @default.
• W103165701 hasConcept C2776735236 @default.
• W103165701 hasConcept C2777499176 @default.
• W103165701 hasConcept C2778198053 @default.
• W103165701 hasConcept C2778797674 @default.
• W103165701 hasConcept C2778996579 @default.
• W103165701 hasConcept C2779134260 @default.
• W103165701 hasConcept C2779468605 @default.
• W103165701 hasConcept C2779969927 @default.
• W103165701 hasConcept C2780247198 @default.
• W103165701 hasConcept C2780942790 @default.
• W103165701 hasConcept C71924100 @default.
• W103165701 hasConceptScore W103165701C10162356 @default.
• W103165701 hasConceptScore W103165701C126322002 @default.
• W103165701 hasConceptScore W103165701C141071460 @default.
• W103165701 hasConceptScore W103165701C142724271 @default.
• W103165701 hasConceptScore W103165701C207886595 @default.
• W103165701 hasConceptScore W103165701C2776418732 @default.
• W103165701 hasConceptScore W103165701C2776735236 @default.
• W103165701 hasConceptScore W103165701C2777499176 @default.
• W103165701 hasConceptScore W103165701C2778198053 @default.
• W103165701 hasConceptScore W103165701C2778797674 @default.
• W103165701 hasConceptScore W103165701C2778996579 @default.
• W103165701 hasConceptScore W103165701C2779134260 @default.
• W103165701 hasConceptScore W103165701C2779468605 @default.
• W103165701 hasConceptScore W103165701C2779969927 @default.
• W103165701 hasConceptScore W103165701C2780247198 @default.
• W103165701 hasConceptScore W103165701C2780942790 @default.
• W103165701 hasConceptScore W103165701C71924100 @default.

• next