FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2887252451> ?p ?o ?g. }

• W2887252451 endingPage "986" @default.
• W2887252451 startingPage "979" @default.
• W2887252451 abstract "Abstract Background Glycogen storage disease type III (GSDIII), due to a deficiency of glycogen debrancher enzyme (GDE), is particularly frequent in Tunisia. Phenotypic particularities of Tunisian patients remain unknown. Our aim was to study complications of GSDIII in a Tunisian population and to explore factors interfering with its course. Methods A retrospective longitudinal study was conducted over 30 years (1986–2016) in the referral metabolic center in Tunisia. Results Fifty GSDIII patients (26 boys), followed for an average 6.75 years, were enrolled. At the last evaluation, the median age was 9.87 years and 24% of patients reached adulthood. Short stature persisted in eight patients and obesity in 19 patients. Lower frequency of hypertriglyceridemia (HTG) was associated with older patients (p<0.0001), higher protein diet (p=0.068) and lower caloric intake (p=0.025). Hepatic complications were rare. Cardiac involvement (CI) was frequent (91%) and occurred early at a median age of 2.6 years. Severe cardiomyopathy (50%) was related to lower doses of uncooked cornstarch (p=0.02). Neuromuscular involvement (NMI) was constant, leading to a functional discomfort in 64% of cases and was disabling in 34% of cases. Severe forms were related to lower caloric (p=0.005) and protein intake (p<0.015). Conclusions A low caloric, protein and uncooked cornstarch intake is associated with a more severe outcome in GSDIII Tunisian patients. Neuromuscular and CIs were particularly precocious and severe, even in childhood. Genetic and epigenetic factors deserve to be explored." @default.
• W2887252451 created "2018-08-22" @default.
• W2887252451 creator A5012403076 @default.
• W2887252451 creator A5018215386 @default.
• W2887252451 creator A5026953728 @default.
• W2887252451 creator A5034377057 @default.
• W2887252451 creator A5039100789 @default.
• W2887252451 creator A5043494751 @default.
• W2887252451 creator A5052338940 @default.
• W2887252451 creator A5055463793 @default.
• W2887252451 creator A5069102171 @default.
• W2887252451 creator A5069132509 @default.
• W2887252451 creator A5073224818 @default.
• W2887252451 creator A5080356619 @default.
• W2887252451 creator A5081215852 @default.
• W2887252451 creator A5082090982 @default.
• W2887252451 date "2018-08-15" @default.
• W2887252451 modified "2023-09-27" @default.
• W2887252451 title "A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients" @default.
• W2887252451 cites W1542188001 @default.
• W2887252451 cites W1600593081 @default.
• W2887252451 cites W1811622844 @default.
• W2887252451 cites W1835518608 @default.
• W2887252451 cites W1967246671 @default.
• W2887252451 cites W1977855872 @default.
• W2887252451 cites W1977943222 @default.
• W2887252451 cites W1983985831 @default.
• W2887252451 cites W1993738054 @default.
• W2887252451 cites W1997877456 @default.
• W2887252451 cites W2003845118 @default.
• W2887252451 cites W2012732674 @default.
• W2887252451 cites W2015079702 @default.
• W2887252451 cites W2017847765 @default.
• W2887252451 cites W2021854018 @default.
• W2887252451 cites W2024887144 @default.
• W2887252451 cites W2026205142 @default.
• W2887252451 cites W2035272473 @default.
• W2887252451 cites W2039150647 @default.
• W2887252451 cites W2043847477 @default.
• W2887252451 cites W2048480897 @default.
• W2887252451 cites W2069931044 @default.
• W2887252451 cites W2090648636 @default.
• W2887252451 cites W2096508288 @default.
• W2887252451 cites W2101099004 @default.
• W2887252451 cites W2119483101 @default.
• W2887252451 cites W2119852927 @default.
• W2887252451 cites W2132700768 @default.
• W2887252451 cites W2162222437 @default.
• W2887252451 cites W2168258369 @default.
• W2887252451 cites W2170004887 @default.
• W2887252451 cites W2171515826 @default.
• W2887252451 cites W2198011986 @default.
• W2887252451 cites W2324932898 @default.
• W2887252451 cites W2335791324 @default.
• W2887252451 doi "https://doi.org/10.1515/jpem-2018-0151" @default.
• W2887252451 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30110253" @default.
• W2887252451 hasPublicationYear "2018" @default.
• W2887252451 type Work @default.
• W2887252451 sameAs 2887252451 @default.
• W2887252451 citedByCount "8" @default.
• W2887252451 countsByYear W28872524512020 @default.
• W2887252451 countsByYear W28872524512021 @default.
• W2887252451 countsByYear W28872524512022 @default.
• W2887252451 countsByYear W28872524512023 @default.
• W2887252451 crossrefType "journal-article" @default.
• W2887252451 hasAuthorship W2887252451A5012403076 @default.
• W2887252451 hasAuthorship W2887252451A5018215386 @default.
• W2887252451 hasAuthorship W2887252451A5026953728 @default.
• W2887252451 hasAuthorship W2887252451A5034377057 @default.
• W2887252451 hasAuthorship W2887252451A5039100789 @default.
• W2887252451 hasAuthorship W2887252451A5043494751 @default.
• W2887252451 hasAuthorship W2887252451A5052338940 @default.
• W2887252451 hasAuthorship W2887252451A5055463793 @default.
• W2887252451 hasAuthorship W2887252451A5069102171 @default.
• W2887252451 hasAuthorship W2887252451A5069132509 @default.
• W2887252451 hasAuthorship W2887252451A5073224818 @default.
• W2887252451 hasAuthorship W2887252451A5080356619 @default.
• W2887252451 hasAuthorship W2887252451A5081215852 @default.
• W2887252451 hasAuthorship W2887252451A5082090982 @default.
• W2887252451 hasConcept C126322002 @default.
• W2887252451 hasConcept C187212893 @default.
• W2887252451 hasConcept C190362976 @default.
• W2887252451 hasConcept C23131810 @default.
• W2887252451 hasConcept C2776919658 @default.
• W2887252451 hasConcept C2777871287 @default.
• W2887252451 hasConcept C2778163477 @default.
• W2887252451 hasConcept C2778913445 @default.
• W2887252451 hasConcept C2908647359 @default.
• W2887252451 hasConcept C2994137971 @default.
• W2887252451 hasConcept C511355011 @default.
• W2887252451 hasConcept C71924100 @default.
• W2887252451 hasConcept C99454951 @default.
• W2887252451 hasConceptScore W2887252451C126322002 @default.
• W2887252451 hasConceptScore W2887252451C187212893 @default.
• W2887252451 hasConceptScore W2887252451C190362976 @default.
• W2887252451 hasConceptScore W2887252451C23131810 @default.
• W2887252451 hasConceptScore W2887252451C2776919658 @default.
• W2887252451 hasConceptScore W2887252451C2777871287 @default.

• next