FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3082794855> ?p ?o ?g. }

• W3082794855 endingPage "33" @default.
• W3082794855 startingPage "27" @default.
• W3082794855 abstract "Abstract Background Congenital disorders of glycosylation (CDG) are a group of metabolic disorders well known to be associated with developmental delay and central nervous system anomalies. The most common CDG is caused by pathogenic variants in the phosphomannomutase 2 gene ( PMM2 ), which impairs one of the first steps of N‐glycosylation and affects multiple organ systems. Cardiac involvement can include pericardial effusion, cardiomyopathy, and arrhythmia, while an association with cardiovascular congenital anomalies is not well studied. Case summary We report a 6‐year‐old individual who initially presented with inverted nipples, developmental delay, and failure to thrive at 3 months of age. At 4 months, due to feeding problems, swallowing exam and echocardiography were performed which revealed a vascular ring anomaly based on a right aortic arch and aberrant left subclavian artery. Subsequent whole exome gene sequencing revealed two pathogenic PMM2‐CDG variants (E139K/R141H) and no known pathogenic mutations related to congenital heart defect (CHD). Discussion This is the first report of vascular ring anomaly in a patient with PMM2‐CDG. We conducted a literature review of PMM2‐CDG patients with reported CHD. Of the 14 patients with PMM2‐CDG and cardiac malformation, the most common CHD's were tetralogy of Fallot, patent ductus arteriosus, and truncus arteriosus. The potential important link between CDG and CHD is stressed and discussed. Furthermore, the importance of multidisciplinary care for CDG patients including early referral to pediatric cardiologists is highlighted." @default.
• W3082794855 created "2020-09-08" @default.
• W3082794855 creator A5002683170 @default.
• W3082794855 creator A5037743096 @default.
• W3082794855 creator A5049645123 @default.
• W3082794855 creator A5065724319 @default.
• W3082794855 creator A5076640163 @default.
• W3082794855 date "2020-08-19" @default.
• W3082794855 modified "2023-09-23" @default.
• W3082794855 title "Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature" @default.
• W3082794855 cites W1527068991 @default.
• W3082794855 cites W1562979324 @default.
• W3082794855 cites W1865501820 @default.
• W3082794855 cites W1980057514 @default.
• W3082794855 cites W1988038477 @default.
• W3082794855 cites W2000192788 @default.
• W3082794855 cites W2038957929 @default.
• W3082794855 cites W2047022274 @default.
• W3082794855 cites W2056078564 @default.
• W3082794855 cites W2078664863 @default.
• W3082794855 cites W2079531131 @default.
• W3082794855 cites W2083900976 @default.
• W3082794855 cites W2084528624 @default.
• W3082794855 cites W2111110297 @default.
• W3082794855 cites W2115167653 @default.
• W3082794855 cites W2126591019 @default.
• W3082794855 cites W2133197373 @default.
• W3082794855 cites W2184931495 @default.
• W3082794855 cites W2319813837 @default.
• W3082794855 cites W2568200856 @default.
• W3082794855 cites W2598463391 @default.
• W3082794855 cites W2737771147 @default.
• W3082794855 cites W2750770745 @default.
• W3082794855 cites W2757331398 @default.
• W3082794855 cites W2765845687 @default.
• W3082794855 cites W2769198787 @default.
• W3082794855 cites W2790537192 @default.
• W3082794855 cites W2796918229 @default.
• W3082794855 cites W2914250213 @default.
• W3082794855 cites W2918094628 @default.
• W3082794855 cites W2957028174 @default.
• W3082794855 cites W2967687621 @default.
• W3082794855 cites W3082794855 @default.
• W3082794855 cites W44429629 @default.
• W3082794855 doi "https://doi.org/10.1002/jmd2.12160" @default.
• W3082794855 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7653259" @default.
• W3082794855 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33204593" @default.
• W3082794855 hasPublicationYear "2020" @default.
• W3082794855 type Work @default.
• W3082794855 sameAs 3082794855 @default.
• W3082794855 citedByCount "4" @default.
• W3082794855 countsByYear W30827948552020 @default.
• W3082794855 countsByYear W30827948552021 @default.
• W3082794855 countsByYear W30827948552023 @default.
• W3082794855 crossrefType "journal-article" @default.
• W3082794855 hasAuthorship W3082794855A5002683170 @default.
• W3082794855 hasAuthorship W3082794855A5037743096 @default.
• W3082794855 hasAuthorship W3082794855A5049645123 @default.
• W3082794855 hasAuthorship W3082794855A5065724319 @default.
• W3082794855 hasAuthorship W3082794855A5076640163 @default.
• W3082794855 hasBestOaLocation W30827948551 @default.
• W3082794855 hasConcept C126322002 @default.
• W3082794855 hasConcept C164705383 @default.
• W3082794855 hasConcept C187212893 @default.
• W3082794855 hasConcept C2776801881 @default.
• W3082794855 hasConcept C2778198053 @default.
• W3082794855 hasConcept C2778646171 @default.
• W3082794855 hasConcept C2778797674 @default.
• W3082794855 hasConcept C2779980429 @default.
• W3082794855 hasConcept C2780074459 @default.
• W3082794855 hasConcept C2781236024 @default.
• W3082794855 hasConcept C2781285907 @default.
• W3082794855 hasConcept C71924100 @default.
• W3082794855 hasConceptScore W3082794855C126322002 @default.
• W3082794855 hasConceptScore W3082794855C164705383 @default.
• W3082794855 hasConceptScore W3082794855C187212893 @default.
• W3082794855 hasConceptScore W3082794855C2776801881 @default.
• W3082794855 hasConceptScore W3082794855C2778198053 @default.
• W3082794855 hasConceptScore W3082794855C2778646171 @default.
• W3082794855 hasConceptScore W3082794855C2778797674 @default.
• W3082794855 hasConceptScore W3082794855C2779980429 @default.
• W3082794855 hasConceptScore W3082794855C2780074459 @default.
• W3082794855 hasConceptScore W3082794855C2781236024 @default.
• W3082794855 hasConceptScore W3082794855C2781285907 @default.
• W3082794855 hasConceptScore W3082794855C71924100 @default.
• W3082794855 hasFunder F4320332161 @default.
• W3082794855 hasIssue "1" @default.
• W3082794855 hasLocation W30827948551 @default.
• W3082794855 hasLocation W30827948552 @default.
• W3082794855 hasLocation W30827948553 @default.
• W3082794855 hasLocation W30827948554 @default.
• W3082794855 hasLocation W30827948555 @default.
• W3082794855 hasOpenAccess W3082794855 @default.
• W3082794855 hasPrimaryLocation W30827948551 @default.
• W3082794855 hasRelatedWork W134549929 @default.
• W3082794855 hasRelatedWork W1583523553 @default.
• W3082794855 hasRelatedWork W1971524537 @default.
• W3082794855 hasRelatedWork W2079316657 @default.

• next