Dorothe Spillmann

Reviewed Pathways (15/29)
Date Identifier Pathway Reference
2015-04-30 R-HSA-4085023 Defective GFPT1 causes CMSTA1 BibTex
2015-04-30 R-HSA-5609974 Defective PGM1 causes PGM1-CDG BibTex
2015-04-30 R-HSA-4719360 Defective DPM3 causes DPM3-CDG BibTex
2015-04-30 R-HSA-4085011 Defective GNE causes sialuria, NK and IBM2 BibTex
2015-04-30 R-HSA-4755609 Defective DHDDS causes RP59 BibTex
2015-04-30 R-HSA-4043916 Defective MPI causes MPI-CDG BibTex
2015-04-30 R-HSA-4755579 Defective SRD5A3 causes SRD5A3-CDG, KHRZ BibTex
2015-04-30 R-HSA-4755583 Defective DOLK causes DOLK-CDG BibTex
2015-04-30 R-HSA-4717374 Defective DPM1 causes DPM1-CDG BibTex
2015-04-30 R-HSA-4719377 Defective DPM2 causes DPM2-CDG BibTex
2015-04-30 R-HSA-4043911 Defective PMM2 causes PMM2-CDG BibTex
2015-04-30 R-HSA-4341670 Defective NEU1 causes sialidosis BibTex
2014-07-09 R-HSA-3781865 Diseases of glycosylation BibTex
2014-07-09 R-HSA-5609975 Diseases associated with glycosylation precursor biosynthesis BibTex
2014-07-09 R-HSA-3560782 Diseases associated with glycosaminoglycan metabolism BibTex
Reviewed Reactions (15/41)
Date Identifier Reaction Reference
2015-04-30 R-HSA-4085027 Defective GFPT1 does not transfer an amino group from L-Gln to F6P to form GlcN6P BibTex
2015-04-30 R-HSA-5609939 Defective PGM1 does not isomerise G6P to G1P BibTex
2015-04-30 R-HSA-4719354 Defective DPM3 does not transfer mannose to DOLP to form DOLPman BibTex
2015-04-30 R-HSA-4088338 Defective GNE does not hydrolyse UDP-GlcNAc BibTex
2015-04-30 R-HSA-4088322 Defective GNE does not phosphorylate ManNAc to ManNAc-6-P BibTex
2015-04-30 R-HSA-4755545 Defective DHDDS does not elongate E,E-FPP BibTex
2015-04-30 R-HSA-3781832 Defective MPI does not isomerize Fru6P to Man6P BibTex
2015-04-30 R-HSA-4755572 Defective SRD5A3 does not reduce pPNOL to DCHOL BibTex
2015-04-30 R-HSA-4755600 Defective DOLK does not phosphorylate DCHOL BibTex
2015-04-30 R-HSA-4717406 Defective DPM1 does not transfer mannose to DOLP to form DOLPman BibTex
2015-04-30 R-HSA-4719375 Defective DPM2 does not transfer mannose to DOLP to form DOLPman BibTex
2015-04-30 R-HSA-3781926 Defective PMM2 does not isomerise Man6P to Man1P BibTex
2015-04-30 R-HSA-4341669 Defective NEU1 does not hydrolyse Neu5Ac from glycoconjugates BibTex
2014-07-09 R-HSA-3656230 Defective B4GALT1 does not transfer Gal to the keratan chain BibTex
2014-07-09 R-HSA-9035949 Defective B4GALT1 does not transfer Gal to the N-glycan precursor BibTex
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