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Dorothe Spillmann
ORCID
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Reviewed Pathways (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
2014-07-09
R-HSA-3656244
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
BibTex
2014-07-09
R-HSA-3656243
Defective ST3GAL3 causes MCT12 and EIEE15
BibTex
2014-07-09
R-HSA-3560796
Defective PAPSS2 causes SEMD-PA
BibTex
2014-07-09
R-HSA-3656253
Defective EXT1 causes exostoses 1, TRPS2 and CHDS
BibTex
2014-07-09
R-HSA-3656248
Defective HEXB causes GM2G2
BibTex
2014-07-09
R-HSA-4420332
Defective B3GALT6 causes EDSP2 and SEMDJL1
BibTex
2014-07-09
R-HSA-3595174
Defective CHST14 causes EDS, musculocontractural type
BibTex
2014-07-09
R-HSA-3595172
Defective CHST3 causes SEDCJD
BibTex
2014-07-09
R-HSA-3656225
Defective CHST6 causes MCDC1
BibTex
2014-07-09
R-HSA-3560801
Defective B3GAT3 causes JDSSDHD
BibTex
2014-07-09
R-HSA-3560783
Defective B4GALT7 causes EDS, progeroid type
BibTex
2014-07-09
R-HSA-3656237
Defective EXT2 causes exostoses 2
BibTex
2014-07-09
R-HSA-3656234
Defective HEXA causes GM2G1
BibTex
2014-07-09
R-HSA-3595177
Defective CHSY1 causes TPBS
BibTex
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