| 1 | CDG1T, PGM1
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| The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
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| Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, James PM, Edmondson AC, Hertecant J, Kozicz T, Thiel C, Vermeersch P, Cassiman D, Beamer L, Morava E, Ghesquière B.
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| Am J Hum Genet 104(5):835-846. doi: 10.1016/j.ajhg.2019.03.003. Epub 2019 Apr 11.
2019
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| 2 | CDG1T, PGM1
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| Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.
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| Loewenthal N, Haim A, Parvari R, Hershkovitz E.
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| Am J Med Genet A 167(12):3139-43. doi: 10.1002/ajmg.a.37294. Epub 2015 Aug 19.
2015
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| 3 | CDG1T, PGM1
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| Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.
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| Ondruskova N, Honzik T, Vondrackova A, Tesarova M, Zeman J, Hansikova H.
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| Neuro Endocrinol Lett 35(2):137-41.
2014
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| 4 | CDG1T, PGM1
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| Multiple phenotypes in phosphoglucomutase 1 deficiency.
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| 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, Laforêt P, Petit F, Aumaître 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.
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| N Engl J Med 370(6):533-42. doi: 10.1056/NEJMoa1206605.
2014
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| 5 | CDG1T, PGM1
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| Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
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| Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Körner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ.
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| Hum Mol Genet 21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5.
2012
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