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Dorothe Spillmann

 ORCID
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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