Query author contributions in Reactome

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Details on Person Baumgartner, MR

Class:Id	Person:70762
_displayName	Baumgartner, MR
_timestamp	0000-00-00 00:00:00
firstname	Matthias R
initial	MR
surname	Baumgartner
(author)	[LiteratureReference:70761] The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency [LiteratureReference:204177] Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation [LiteratureReference:3149550] Gene identification for the cblD defect of vitamin B12 metabolism [LiteratureReference:3245902] Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism [LiteratureReference:3318577] Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations [LiteratureReference:3318597] The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis [LiteratureReference:3928676] Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism [LiteratureReference:5696063] Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome [LiteratureReference:9908587] 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening [LiteratureReference:9908592] 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals List all 13 refering instances
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No pathways have been reviewed or authored by Baumgartner, MR (70762)