Matches in SemOpenAlex for { <https://semopenalex.org/work/W3135672382> ?p ?o ?g. }
Showing items 1 to 68 of
68
with 100 items per page.
- W3135672382 endingPage "349" @default.
- W3135672382 startingPage "349" @default.
- W3135672382 abstract "Aims & Objectives: 5,10-Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that plays an important role in folate metabolism and related with DNA synthesis, repair and methylation. MTHFR polymorphism has been positively associated with many different diseases. Here, it was aimed to evaluate MTHFR polymorphism, which has been shown to be associated with midline defects such as neural tube defect, omphalocele gastroschisis and cleft palate / lip, as a possible risk factor for congenital diaphragmatic hernia (CDH). Methods: MTHFR gene mutation analysis was investigated from a total of 10 newborn babies diagnosed with congenital diaphragmatic hernia who were admitted to Pediatric Intensive Care Unit of Hacettepe University between 2015-2019. Results: All children were heterozygous or homozygous for the MTHFR gene. 3 patients had only MTHFR 677 heterozygous mutation, 3 patients had only MTHFR 1298 heterozygous mutation, and 3 patients had both MTHFR 677 and MTFR 1298 heterozygous mutation, 1 patient had MTHFR 677 homozygous mutation. There were no patients with normal 2 MTHFR allele. This is the first study based on the hypothesis that MTHFR gene mutation may be a possible risk factor for CDH. This study found that MTHFR polymorphism common in children with CDH. Because of our study has limitations such as not having a control group, not having mother infant folic acid and homocysteine levels. Conclusions: Larger prospective studies are needed to show the relationship between MTHFR polymorphism and CDH." @default.
- W3135672382 created "2021-03-15" @default.
- W3135672382 creator A5014788326 @default.
- W3135672382 creator A5029618418 @default.
- W3135672382 creator A5032765349 @default.
- W3135672382 date "2021-03-01" @default.
- W3135672382 modified "2023-09-27" @default.
- W3135672382 title "P0724 / #1912: ASSOCIATION OF FETAL MTHFR POLYMORPHISM WITH CONGENITAL DIAPHRAGMATIC HERNIA" @default.
- W3135672382 doi "https://doi.org/10.1097/01.pcc.0000741232.55405.64" @default.
- W3135672382 hasPublicationYear "2021" @default.
- W3135672382 type Work @default.
- W3135672382 sameAs 3135672382 @default.
- W3135672382 citedByCount "0" @default.
- W3135672382 crossrefType "journal-article" @default.
- W3135672382 hasAuthorship W3135672382A5014788326 @default.
- W3135672382 hasAuthorship W3135672382A5029618418 @default.
- W3135672382 hasAuthorship W3135672382A5032765349 @default.
- W3135672382 hasBestOaLocation W31356723821 @default.
- W3135672382 hasConcept C104317684 @default.
- W3135672382 hasConcept C126322002 @default.
- W3135672382 hasConcept C135763542 @default.
- W3135672382 hasConcept C141071460 @default.
- W3135672382 hasConcept C172680121 @default.
- W3135672382 hasConcept C2777146472 @default.
- W3135672382 hasConcept C2777943237 @default.
- W3135672382 hasConcept C2779096551 @default.
- W3135672382 hasConcept C2779234561 @default.
- W3135672382 hasConcept C43563269 @default.
- W3135672382 hasConcept C54355233 @default.
- W3135672382 hasConcept C71924100 @default.
- W3135672382 hasConcept C86803240 @default.
- W3135672382 hasConcept C90924648 @default.
- W3135672382 hasConceptScore W3135672382C104317684 @default.
- W3135672382 hasConceptScore W3135672382C126322002 @default.
- W3135672382 hasConceptScore W3135672382C135763542 @default.
- W3135672382 hasConceptScore W3135672382C141071460 @default.
- W3135672382 hasConceptScore W3135672382C172680121 @default.
- W3135672382 hasConceptScore W3135672382C2777146472 @default.
- W3135672382 hasConceptScore W3135672382C2777943237 @default.
- W3135672382 hasConceptScore W3135672382C2779096551 @default.
- W3135672382 hasConceptScore W3135672382C2779234561 @default.
- W3135672382 hasConceptScore W3135672382C43563269 @default.
- W3135672382 hasConceptScore W3135672382C54355233 @default.
- W3135672382 hasConceptScore W3135672382C71924100 @default.
- W3135672382 hasConceptScore W3135672382C86803240 @default.
- W3135672382 hasConceptScore W3135672382C90924648 @default.
- W3135672382 hasIssue "Supplement 1 3S" @default.
- W3135672382 hasLocation W31356723821 @default.
- W3135672382 hasLocation W31356723822 @default.
- W3135672382 hasOpenAccess W3135672382 @default.
- W3135672382 hasPrimaryLocation W31356723821 @default.
- W3135672382 hasRelatedWork W154312079 @default.
- W3135672382 hasRelatedWork W2043387984 @default.
- W3135672382 hasRelatedWork W2047967234 @default.
- W3135672382 hasRelatedWork W2366871124 @default.
- W3135672382 hasRelatedWork W2382897689 @default.
- W3135672382 hasRelatedWork W2414339268 @default.
- W3135672382 hasRelatedWork W2439875401 @default.
- W3135672382 hasRelatedWork W3135672382 @default.
- W3135672382 hasRelatedWork W3149902323 @default.
- W3135672382 hasRelatedWork W4322722459 @default.
- W3135672382 hasVolume "22" @default.
- W3135672382 isParatext "false" @default.
- W3135672382 isRetracted "false" @default.
- W3135672382 magId "3135672382" @default.
- W3135672382 workType "article" @default.