FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2048594700> ?p ?o ?g. }

• W2048594700 endingPage "207" @default.
• W2048594700 startingPage "201" @default.
• W2048594700 abstract "Investigation of seven patients from three families suspected of a fatty acid oxidation defect showed mean CPT-I enzyme activity of 5.9 ± 4.9 percent of normal controls. The families, two Inuit, one First Nation, live in areas of Canada geographically very distant from each other. The CPT1 and CPT2 genes were fully sequenced in 5 of the patients. All were homozygous for the same P479L mutation in a highly conserved region of the CPT1 gene. Two patients from the first family were also homozygous for the CPT2 F352C polymorphism in the CPT2 gene. Genotyping the patients and their family members confirmed that all seven patients were homozygous for the P479L variant allele in the CPT1 gene, as were 27 of 32 family members. Three of the seven patients and two cousins had hypoketotic hypoglycemia attributable to CPT-Ia deficiency, but adults homozygous for the variant denied hypoglycemia. We screened 422 consecutive newborns from the region of one of the Inuit families for this variant; 294 were homozygous, 103 heterozygous, and only 25 homozygous normal; thus the frequency of this variant allele is 0.81. There was an infant death in one family and at least 10 more deaths in those infants (7 homozygous, 3 heterozygous) consecutively tested for the mutation at birth. Thus there is an astonishingly high frequency of CPT1 P479L variant and, judging from the enzyme analysis in the seven patients, also CPT-I deficiency in the areas of Canada inhabited by these families. Despite the deficiency of CPT-Ia which is the major rate-limiting enzyme for long chain fatty acid oxidation, clinical effects, with few exceptions, were slight or absent. One clue to explaining this paradox is that, judging from the fatty acid oxidation studies in whole blood and fibroblasts, the low residual activity of CPT-Ia is sufficient to allow a reasonable flux through the mitochondrial oxidation system. It is likely that the P479L variant is of ancient origin and presumably its preservation must have conveyed some advantage." @default.
• W2048594700 created "2016-06-24" @default.
• W2048594700 creator A5003649136 @default.
• W2048594700 creator A5013760280 @default.
• W2048594700 creator A5015469970 @default.
• W2048594700 creator A5022360294 @default.
• W2048594700 creator A5033320352 @default.
• W2048594700 creator A5033879316 @default.
• W2048594700 creator A5039396185 @default.
• W2048594700 creator A5039733240 @default.
• W2048594700 creator A5040743356 @default.
• W2048594700 creator A5049389773 @default.
• W2048594700 creator A5078346633 @default.
• W2048594700 creator A5089882713 @default.
• W2048594700 creator A5090571343 @default.
• W2048594700 date "2009-04-01" @default.
• W2048594700 modified "2023-10-06" @default.
• W2048594700 title "The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations" @default.
• W2048594700 cites W1501128265 @default.
• W2048594700 cites W1531626387 @default.
• W2048594700 cites W1545064199 @default.
• W2048594700 cites W177908265 @default.
• W2048594700 cites W1834303186 @default.
• W2048594700 cites W1927727302 @default.
• W2048594700 cites W1969616382 @default.
• W2048594700 cites W1973181474 @default.
• W2048594700 cites W1978945178 @default.
• W2048594700 cites W1981185496 @default.
• W2048594700 cites W1983653450 @default.
• W2048594700 cites W1986876315 @default.
• W2048594700 cites W1991456979 @default.
• W2048594700 cites W1993251563 @default.
• W2048594700 cites W1998232607 @default.
• W2048594700 cites W2000349524 @default.
• W2048594700 cites W2001205503 @default.
• W2048594700 cites W2003661489 @default.
• W2048594700 cites W2010556458 @default.
• W2048594700 cites W2016408839 @default.
• W2048594700 cites W2054334375 @default.
• W2048594700 cites W2055614534 @default.
• W2048594700 cites W2056085236 @default.
• W2048594700 cites W2062365107 @default.
• W2048594700 cites W2071481043 @default.
• W2048594700 cites W2080001629 @default.
• W2048594700 cites W2098705980 @default.
• W2048594700 cites W2123209943 @default.
• W2048594700 cites W2123447727 @default.
• W2048594700 cites W2126644316 @default.
• W2048594700 cites W2127812547 @default.
• W2048594700 cites W2131698027 @default.
• W2048594700 cites W2132730662 @default.
• W2048594700 cites W2166613281 @default.
• W2048594700 cites W2307853259 @default.
• W2048594700 cites W2323305598 @default.
• W2048594700 cites W91646069 @default.
• W2048594700 doi "https://doi.org/10.1016/j.ymgme.2008.12.018" @default.
• W2048594700 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19217814" @default.
• W2048594700 hasPublicationYear "2009" @default.
• W2048594700 type Work @default.
• W2048594700 sameAs 2048594700 @default.
• W2048594700 citedByCount "62" @default.
• W2048594700 countsByYear W20485947002012 @default.
• W2048594700 countsByYear W20485947002013 @default.
• W2048594700 countsByYear W20485947002014 @default.
• W2048594700 countsByYear W20485947002015 @default.
• W2048594700 countsByYear W20485947002016 @default.
• W2048594700 countsByYear W20485947002017 @default.
• W2048594700 countsByYear W20485947002018 @default.
• W2048594700 countsByYear W20485947002019 @default.
• W2048594700 countsByYear W20485947002020 @default.
• W2048594700 countsByYear W20485947002021 @default.
• W2048594700 countsByYear W20485947002022 @default.
• W2048594700 countsByYear W20485947002023 @default.
• W2048594700 crossrefType "journal-article" @default.
• W2048594700 hasAuthorship W2048594700A5003649136 @default.
• W2048594700 hasAuthorship W2048594700A5013760280 @default.
• W2048594700 hasAuthorship W2048594700A5015469970 @default.
• W2048594700 hasAuthorship W2048594700A5022360294 @default.
• W2048594700 hasAuthorship W2048594700A5033320352 @default.
• W2048594700 hasAuthorship W2048594700A5033879316 @default.
• W2048594700 hasAuthorship W2048594700A5039396185 @default.
• W2048594700 hasAuthorship W2048594700A5039733240 @default.
• W2048594700 hasAuthorship W2048594700A5040743356 @default.
• W2048594700 hasAuthorship W2048594700A5049389773 @default.
• W2048594700 hasAuthorship W2048594700A5078346633 @default.
• W2048594700 hasAuthorship W2048594700A5089882713 @default.
• W2048594700 hasAuthorship W2048594700A5090571343 @default.
• W2048594700 hasConcept C104317684 @default.
• W2048594700 hasConcept C126322002 @default.
• W2048594700 hasConcept C134018914 @default.
• W2048594700 hasConcept C135763542 @default.
• W2048594700 hasConcept C180754005 @default.
• W2048594700 hasConcept C2776169613 @default.
• W2048594700 hasConcept C2776423169 @default.
• W2048594700 hasConcept C2778435403 @default.
• W2048594700 hasConcept C2779306644 @default.
• W2048594700 hasConcept C2780668416 @default.
• W2048594700 hasConcept C31467283 @default.

• next