Reactome | Suormala, T

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Suormala, T Show undefined attributes

dbId	70763
displayName	Suormala, T
firstname	Terttu
initial	T
publications	[LiteratureReference:3318597] The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis [LiteratureReference:9908587] 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening [LiteratureReference:3149550] Gene identification for the cblD defect of vitamin B12 metabolism [LiteratureReference:9908603] Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy [LiteratureReference:3321962] cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression [LiteratureReference:70761] The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency [LiteratureReference:3245902] Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism [LiteratureReference:9908592] 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals [LiteratureReference:3000283] Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism [LiteratureReference:9908598] A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency [LiteratureReference:3318577] Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations [LiteratureReference:3928676] Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
schemaClass	Person
surname	Suormala

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