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Entry
N00674                      Network                                

Name
PGM1 deficiency in N-glycan precursor biosynthesis
Definition
Glc-6P -- PGM1*
  Expanded
C00668 -- 5236v1
Class
nt06015 N-Glycan biosynthesis
Type
Variant
Pathway
hsa00520  Amino sugar and nucleotide sugar metabolism
Disease
H00118  Congenital disorders of glycosylation type I
Gene
5236  PGM1; phosphoglucomutase 1
Variant
5236v1  PGM1 deficiency
Metabolite
C00668  alpha-D-Glucose 6-phosphate
Reference
  Authors
Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforet P, Petit F, Aumaitre O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T
  Title
Multiple phenotypes in phosphoglucomutase 1 deficiency.
  Journal
N Engl J Med 370:533-42 (2014)
DOI:10.1056/NEJMoa1206605
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