Matches in SemOpenAlex for { <https://semopenalex.org/work/W2405233506> ?p ?o ?g. }
Showing items 1 to 79 of
79
with 100 items per page.
- W2405233506 endingPage "8" @default.
- W2405233506 startingPage "1" @default.
- W2405233506 abstract "Purpose: 3-methylcrotonyl CoA carboxylase deficiency (3MCCD) is leucine metabolic disorder caused by mutation in MCCC1 or MCCC2 gene. Clinical manifestations are variable, ranging from fatal neonatal onset to asymptomatic individuals. There is no retrospective study of Korean patients undergoing long-term treatment for 3MCCD. We reported this study to find out clinical symptoms and gene analysis of 3MCCD patients. Methods: This study was based on data of patients diagnosed with 3MCCD in Soonchunhyang university hospital between April 2009 and September 2013. We report clinical, enzymatic and mutation data of 3MCCD patients found by newborn screening. Results: In tandem mass spectrometry, 3-OH-isovalerylcarnitine (C5OH) of all patients increased. And all 7 patients were elevated 3-methylcrotonylglycine (3MCG) and 3-hydroxyisovaleric acid (3HIVA) in urine. MCCC mutation was identified in 2 patients and MCCC2 was mutated in 5 patients. We found mutation occurred in 8 different parts of nucleotide and such mutation caused 7 different types of changes in amino acid. All patients are on medication of L-carnitine and L-glycine. 4 patients are taking biotin. And 4 patients are eating leucine free formula. After starting treatment, there were no significant changes of urine 3MCG and 3HIVA levels. Conclusions: According to our data, MCCC2 gene mutation was more common than MCCC1 gene mutation. But the level of 3HIVA or 3MCG in urine has no correlation with phenotype. All patients has no symptoms and are shown normal development." @default.
- W2405233506 created "2016-06-24" @default.
- W2405233506 creator A5048873701 @default.
- W2405233506 creator A5060079618 @default.
- W2405233506 creator A5075938435 @default.
- W2405233506 creator A5074058943 @default.
- W2405233506 date "2015-01-01" @default.
- W2405233506 modified "2023-09-23" @default.
- W2405233506 title "Clinical Findings and Gene Analysis of 3-Methylcrotonyl-CoA Carboxylase Deficiency" @default.
- W2405233506 hasPublicationYear "2015" @default.
- W2405233506 type Work @default.
- W2405233506 sameAs 2405233506 @default.
- W2405233506 citedByCount "0" @default.
- W2405233506 crossrefType "journal-article" @default.
- W2405233506 hasAuthorship W2405233506A5048873701 @default.
- W2405233506 hasAuthorship W2405233506A5060079618 @default.
- W2405233506 hasAuthorship W2405233506A5074058943 @default.
- W2405233506 hasAuthorship W2405233506A5075938435 @default.
- W2405233506 hasConcept C104317684 @default.
- W2405233506 hasConcept C126322002 @default.
- W2405233506 hasConcept C134018914 @default.
- W2405233506 hasConcept C187212893 @default.
- W2405233506 hasConcept C2776169613 @default.
- W2405233506 hasConcept C2776580952 @default.
- W2405233506 hasConcept C2777910003 @default.
- W2405233506 hasConcept C2780026642 @default.
- W2405233506 hasConcept C2994225774 @default.
- W2405233506 hasConcept C501734568 @default.
- W2405233506 hasConcept C515207424 @default.
- W2405233506 hasConcept C54355233 @default.
- W2405233506 hasConcept C71924100 @default.
- W2405233506 hasConcept C86803240 @default.
- W2405233506 hasConcept C90924648 @default.
- W2405233506 hasConceptScore W2405233506C104317684 @default.
- W2405233506 hasConceptScore W2405233506C126322002 @default.
- W2405233506 hasConceptScore W2405233506C134018914 @default.
- W2405233506 hasConceptScore W2405233506C187212893 @default.
- W2405233506 hasConceptScore W2405233506C2776169613 @default.
- W2405233506 hasConceptScore W2405233506C2776580952 @default.
- W2405233506 hasConceptScore W2405233506C2777910003 @default.
- W2405233506 hasConceptScore W2405233506C2780026642 @default.
- W2405233506 hasConceptScore W2405233506C2994225774 @default.
- W2405233506 hasConceptScore W2405233506C501734568 @default.
- W2405233506 hasConceptScore W2405233506C515207424 @default.
- W2405233506 hasConceptScore W2405233506C54355233 @default.
- W2405233506 hasConceptScore W2405233506C71924100 @default.
- W2405233506 hasConceptScore W2405233506C86803240 @default.
- W2405233506 hasConceptScore W2405233506C90924648 @default.
- W2405233506 hasIssue "1" @default.
- W2405233506 hasLocation W24052335061 @default.
- W2405233506 hasOpenAccess W2405233506 @default.
- W2405233506 hasPrimaryLocation W24052335061 @default.
- W2405233506 hasRelatedWork W111189857 @default.
- W2405233506 hasRelatedWork W1523878551 @default.
- W2405233506 hasRelatedWork W1548812023 @default.
- W2405233506 hasRelatedWork W2016993916 @default.
- W2405233506 hasRelatedWork W2017096749 @default.
- W2405233506 hasRelatedWork W2060730749 @default.
- W2405233506 hasRelatedWork W2066979699 @default.
- W2405233506 hasRelatedWork W2077228668 @default.
- W2405233506 hasRelatedWork W2088014281 @default.
- W2405233506 hasRelatedWork W2093453261 @default.
- W2405233506 hasRelatedWork W2094737508 @default.
- W2405233506 hasRelatedWork W2133592539 @default.
- W2405233506 hasRelatedWork W2139671073 @default.
- W2405233506 hasRelatedWork W2155209786 @default.
- W2405233506 hasRelatedWork W2352777270 @default.
- W2405233506 hasRelatedWork W2380345346 @default.
- W2405233506 hasRelatedWork W2419530082 @default.
- W2405233506 hasRelatedWork W3028902494 @default.
- W2405233506 hasRelatedWork W3028927730 @default.
- W2405233506 hasRelatedWork W3029052707 @default.
- W2405233506 hasVolume "15" @default.
- W2405233506 isParatext "false" @default.
- W2405233506 isRetracted "false" @default.
- W2405233506 magId "2405233506" @default.
- W2405233506 workType "article" @default.