Query author contributions in Reactome

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Details on Person Marquardt, T

Class:Id	Person:449218
_displayName	Marquardt, T
_timestamp	2010-06-25 23:02:24
created	[InstanceEdit:449318] Jassal, B, 2009-12-02
firstname	Thorsten
initial	T
modified	[InstanceEdit:879981] D'Eustachio, P, 2010-06-25
surname	Marquardt
(author)	[LiteratureReference:449240] Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I [LiteratureReference:449705] A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy [LiteratureReference:532543] Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib) [LiteratureReference:742378] Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency [LiteratureReference:880025] A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria [LiteratureReference:3000283] Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism [LiteratureReference:5609943] Multiple phenotypes in phosphoglucomutase 1 deficiency [LiteratureReference:9859455] Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects [LiteratureReference:9909225] Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction
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No pathways have been reviewed or authored by Marquardt, T (449218)