Matches in SemOpenAlex for { <https://semopenalex.org/work/W2045847546> ?p ?o ?g. }
Showing items 1 to 53 of
53
with 100 items per page.
- W2045847546 endingPage "73" @default.
- W2045847546 startingPage "73" @default.
- W2045847546 abstract "Vitamin B12-responsive methylmalonic aciduria is characterized by deficient synthesis of adenosylcobalamin (AdoCbl) and decreased activity of the AdoCbl-dependent mitochondrial enzyme, methylmalonylCoA mutase. Two distinct disorders of AdoCbl synthesized have been characterized (cblA and cblB) and they can be distinguished on the basis of somatic cell complementation analysis. Such studies have clinical usefulness because in general cblA patients have a better prognosis than do cblB patients. We reported a patient whose fibroblasts had the clinical and biochemical features of the cblA class but complemented cells from all known inborn errors of cobalamin metabolism that cause methylmalonic aciduria, including cblA. The disorder in this patient was designated as cblA variant. Cells from this patient were tested against a panel of 29 cell lines from cblA patients and complemented all members of this panel. These studies strongly suggest that this patient represents a novel complementation class which we have called cblH. Detailed complementation analysis of a panel of 10 cblA lines provided evidence of interallelic complementation. The presence of this interallelic complementation indicates that care must be taken in the use of complementation analysis to identify cblA patients. These studies suggest that additional biochemical steps are required for the reduction and adenosylation of cobalamin. The full clinical spectrum of the new cblH class and its implications remains to be defined." @default.
- W2045847546 created "2016-06-24" @default.
- W2045847546 creator A5015404628 @default.
- W2045847546 creator A5019639861 @default.
- W2045847546 creator A5034733284 @default.
- W2045847546 date "2000-01-01" @default.
- W2045847546 modified "2023-10-14" @default.
- W2045847546 title "Vitamin B 12-responsive methylmalonic aciduria due to a new inborn error of adenosylcobalamin synthesis, cblH" @default.
- W2045847546 doi "https://doi.org/10.1097/00125817-200001000-00080" @default.
- W2045847546 hasPublicationYear "2000" @default.
- W2045847546 type Work @default.
- W2045847546 sameAs 2045847546 @default.
- W2045847546 citedByCount "0" @default.
- W2045847546 crossrefType "journal-article" @default.
- W2045847546 hasAuthorship W2045847546A5015404628 @default.
- W2045847546 hasAuthorship W2045847546A5019639861 @default.
- W2045847546 hasAuthorship W2045847546A5034733284 @default.
- W2045847546 hasBestOaLocation W20458475461 @default.
- W2045847546 hasConcept C134018914 @default.
- W2045847546 hasConcept C2778159418 @default.
- W2045847546 hasConcept C2778979354 @default.
- W2045847546 hasConcept C2779750884 @default.
- W2045847546 hasConcept C2780676250 @default.
- W2045847546 hasConcept C2910256814 @default.
- W2045847546 hasConcept C71924100 @default.
- W2045847546 hasConceptScore W2045847546C134018914 @default.
- W2045847546 hasConceptScore W2045847546C2778159418 @default.
- W2045847546 hasConceptScore W2045847546C2778979354 @default.
- W2045847546 hasConceptScore W2045847546C2779750884 @default.
- W2045847546 hasConceptScore W2045847546C2780676250 @default.
- W2045847546 hasConceptScore W2045847546C2910256814 @default.
- W2045847546 hasConceptScore W2045847546C71924100 @default.
- W2045847546 hasIssue "1" @default.
- W2045847546 hasLocation W20458475461 @default.
- W2045847546 hasOpenAccess W2045847546 @default.
- W2045847546 hasPrimaryLocation W20458475461 @default.
- W2045847546 hasRelatedWork W1965591825 @default.
- W2045847546 hasRelatedWork W2042379844 @default.
- W2045847546 hasRelatedWork W2073796587 @default.
- W2045847546 hasRelatedWork W2075171987 @default.
- W2045847546 hasRelatedWork W2078170896 @default.
- W2045847546 hasRelatedWork W2085998213 @default.
- W2045847546 hasRelatedWork W2151953480 @default.
- W2045847546 hasRelatedWork W2276306589 @default.
- W2045847546 hasRelatedWork W4200193774 @default.
- W2045847546 hasRelatedWork W4220784793 @default.
- W2045847546 hasVolume "2" @default.
- W2045847546 isParatext "false" @default.
- W2045847546 isRetracted "false" @default.
- W2045847546 magId "2045847546" @default.
- W2045847546 workType "article" @default.