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Dorothe Spillmann
Expand All
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
Show all reviewed pathways...
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
Show all reviewed reactions...
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