|
[1] SCOTT K, GADOMSKI T, KOZICZ T, et al. Congenital disorders of glycosylation:New defects and still counting[J]. J Inherit Metab Dis, 2014, 37 (4) :609-617.
|
|
[2] JAEKEN J. Congenital disorders of glycosylation (CDG) :It's (nearly) all in it![J]. J Inherit Metab Dis, 2011, 34 (4) :853-858.
|
|
[3] JAEKEN J. Congenital disorders of glycosylation[J]. Handb Clin Neurol, 2013, 113:1737-1743.
|
|
[4] NG BG, FREEZE HH. Perspectives on glycosylation and its congenital disorders[J]. Trends Genet, 2018, 34 (6) :466-476.
|
|
[5] PANNE R, de LONLAY P, FOULQUIER F, et al. Congenital disorders of glycosylation (CDG) :Quo vadis?[J]. Eur J Med Genet, 2018, 61 (11) :643-663.
|
|
[6] JAEKEN J, PANNE R. What is new in CDG?[J]. J Inherit Metab Dis, 2017, 40 (4) :569-586.
|
|
[7] PARKS SE, KRASNEWICH DM. Congenital disorders of N-linked glycosylation and multiple pathway overview[M/OL]//ADAM MP, ARDINGER HH, PAGON RA, et al. GeneReviews. Seattle (WA) :University of Washington, Seattle.
|
|
[8] REILY C, STEWART TJ, RENFROW MB, et al. Glycosylation in health and disease[J]. Nat Rev Nephrol, 2019, 15 (6) :346-366.
|
|
[9] YAREMA KJ, BERTOZZI CR. Characterizing glycosylation pathways[J]. Genome Biol, 2001, 2 (5) :REVIEWS0004.
|
|
[10] CHANG IJ, HE M, LAM CT. Congenital disorders of glycosylation[J]. Ann Transl Med, 2018, 6 (24) :477.
|
|
[11] van TOL W, WESSELS H, LEFEBER DJ. O-glycosylation disorders pave the road for understanding the complex human O-glycosylation machinery[J]. Curr Opin Struct Biol, 2019, 56:107-118.
|
|
[12] CYLWIK B, NAKLICKI M, CHROSTEK L, et al. Congenital disorders of glycosylation. Part I. Defects of protein N-glycosylation[J]. Acta Biochim Pol, 2013, 60 (2) :151-161.
|
|
[13] CYLWIK B, LIPARTOWSKA K, CHROSTEK L, et al. Congenital disorders of glycosylation. Part II. Defects of protein Oglycosylation[J]. Acta Biochim Pol, 2013, 60 (3) :361-368.
|
|
[14] THIEL C, KRNER C. Mouse models for congenital disorders of glycosylation[J]. J Inherit Metab Dis, 2011, 34 (4) :879-889.
|
|
[15] STANLEY P. What have we learned from glycosyltransferase knockouts in mice?[J]. J Mol Biol, 2016, 428 (16) :3166-3182.
|
|
[16] WOODS AG, WOODS CW, SNOW TM. Congenital disorders of glycosylation[J]. Adv Neonatal Care, 2012, 12 (2) :90-95.
|
|
[17] THEODORE M, MORAVA E. Congenital disorders of glycosylation:Sweet news[J]. Curr Opin Pediatr, 2011, 23 (6) :581-587.
|
|
[18] RYMEN D, JAEKEN J. Skin manifestations in CDG[J]. J Inherit Metab Dis, 2014, 37 (5) :699-708.
|
|
[19] GORETA SS, DABELIC S, DUMIC J. Insights into complexity of congenital disorders of glycosylation[J]. Biochem Med (Zagreb) , 2012, 22 (2) :156-170.
|
|
[20] STURIALE L, BARONE R, GAROZZO D. The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation[J]. J Inherit Metab Dis, 2011, 34 (4) :891-899.
|
|
[21] WADA Y. Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation[J]. Glycoconj J, 2016, 33 (3) :297-307.
|
|
[22] ABU BAKAR N, LEFEBER DJ, van SCHERPENZEEL M. Clinical glycomics for the diagnosis of congenital disorders of glycosylation[J]. J Inherit Metab Dis, 2018, 41 (3) :499-513.
|
|
[23] BRASIL S, PASCOAL C, FRANCISCO R, et al. CDG therapies:From bench to bedside[J]. Int J Mol Sci, 2018, 19 (5) . pii:E1304.
|
|
[24] WITTERS P, CASSIMAN D, MORAVA E. Nutritional therapies in congenital disorders of glycosylation (CDG) [J]. Nutrients, 2017, 9 (11) . pii:E1222.
|
|
[25] THIEL C, KRNER C. Therapies and therapeutic approaches in congenital disorders of glycosylation[J]. Glycoconj J, 2013, 30 (1) :77-84.
|
|
[26] MARQUES-DA-SILVA D, DOS REIS FERREIRA V, MONTICELLI M, et al. Liver involvement in congenital disorders of glycosylation (CDG) . A systematic review of the literature[J]. J Inherit Metab Dis, 2017, 40 (2) :195-207.
|
|
[27] EKLUND EA, FREEZE HH. Congenital disorders of glycosylation and their effects on the liver[M]//MURRAY K, LARSON A. Fibrocystic Diseases of the Liver. USA:Humana Press.
|
|
[28] ROCK N, MCLIN V. Liver involvement in children with ciliopathies[J]. Clin Res Hepatol Gastroenterol, 2014, 38 (4) :407-414.
|
|
[29] JANSSEN MJ, WAANDERS E, WOUDENBERG J, et al. Congenital disorders of glycosylation in hepatology:The example of polycystic liver disease[J]. J Hepatol, 2010, 52 (3) :432-440.
|
|
[30] HLSMEIER AJ, TOBLER M, BURDA P, et al. Glycosylation site occupancy in health, congenital disorder of glycosylation and fatty liver disease[J]. Sci Rep, 2016, 6:33927.
|
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