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38653092,38622837,38559322,38550576,38489976,38449779,38439013,38323760,38262859,38256263,38240170,37955240,37858231,37848450,37644541,37193126,37086590,37069668,37064333,37042760,37023501,36719165,36713804,36583024,36579437,36255677,36060529,36060528,35955863,35934380,35907899,35907674,35810431,35682409,35637269,35603178,35562242,35536942,35331276,35279850,35211808,35205402,35006422,34999954,34851357,34788024,34567084,34540767,34447415,34441372,34440401,34420056,34389986,34358634,34291020,34258140,34173795,34022244,33960418,33667052,33663989,33643843,33618527,33554500,33531289,33440761,33413482,33407696,33340551,33315314,33261925,33129689,33076454,32991969,32821050,32700771,32677746,32635232,32629928,32605344,32599014,32547898,32267060,32253875,32157688,32064623,31741824,31677975,31534212,31420886,31374155,31132195,30950015,30770376,30740725,30740408,30653653,30587846,30397276,30008170,29983310,29869806,29701302,29579191,29547901,29502919,29497882,29235540,29112118,29079546,28950866,28940310,28742265,28726068,28457853,28300031,28236367,28122681,28108845,27591658,27401145,27393411,27343064,27172925,27134828,27095603,27089502,26805780,26739145,26453362,26430078,26307094,26132001,25840516,25305627,25192513,24875750,24831587,24739649,24555185,24305089,24153356,24051442,23928051,23842455,23806237,23798010,23742123,23730680,23622397,23485208,23430905,23401092,22991164,22983739,22838182,22723063,22496445,22492991,22469961,22343051,22327749,22305527,21970833,21920538,21811164,21431619,21384229,21384227,21315133,21273509,21175687,21029365,20807649,20679665,20605848,20528096,20216285,20138683,19862844,19856127,19840782,19757145,19690088,19608465,19576565,19474279,19288450,19207313,19146845,19100247,19019927,18949576,18462449,18392739,18198629,18034167,18024528,17963418,17959325,17920054,17904886,17878547,17716641,17639595,17613998,17584079,17506657,17061182,16554263,16552784,16517226,16435229,16328327,16191002,16154350,16037491,15912511,15841907,15771971,15664773,15545299,15273506,15272470,15259372,15171833,15076627,14694955,14633925,14601252,13130291,12907065,12889654,12872840,12773475,12763243,12756558,12729595,12690561,12684507,12626422,12530817,12480927,12409504,12357336,12242963,11983712,11891694,11805072,11745038,11723393,11715002,11701646,11596651,11589167,11583570,11417605,11326280,11308015,11306275,11275952,11159919,11140630,11134235,11058895,10980531,10929009,10922383,10854097,38733638,38722107,38717015,38703411,38628705,38617304,38599261,38597022,38587076,38564972,38509968,38493608,38433930,38427364,38375626,38308356,38130891,38129426,38124489,38075676,37961693,37927489,37908211,37876147,37766827,37711075,37647829,37628636,37597336,37589195,37542768,37425073,37421173,37392701,37372388,37340906,37274081,37245379,37224763,37204045,37181075,37180423,37180418,37124179,37108612,37023243,36965289,36930724,36873091,36854416,36843332,36831116,36756224,36709920,36706865,36651831,36651519,36636598,36597345,36588700,36559314,36439385,36426412,36386804,36357165,36324500,36309700,36257191,36224347,36221102,36214423,36046393,35982769,35910228,35839600,35790351,35716054,35674301,35665995,35568419,35491370,35401690,35339718,35338746,35327592,35281664,35262690,35237617,35235741,35221878,35154715,35137040,35068072,35048409,35042660,34956305,34925443,34831340,34828263,34802815,34784297,34765394,34711829,34708008,34682117,34659374,34653363,34652821,34625939,34621841,34603392,34602961,34567092,34486878,34468083,34462534,34380532,34277356,34246313,34245688,34205449,34163424,34162022,34161696,34143952,34141584,34140212,34122512,34090370,34043239,33964207,33858316,33807002,33743737,33728255,33655008,33644825,33632285,33619652,33583911,33583022,33552911,33508693,33403770,33394555,33312876,33300232,33209585,33204592,33147965,33133147,33098580,33080352,33058492,33044030,33036649,32963965,32962735,32905087,32905044,32884905,32874916,32776892,32712172,32685345,32683677,32681750,32655146,32630370,32530140,32512173,32407885,32395412,32389449,32332102,32289257,32266963,32216104,32174980,32145091,32103184,32071842,32049367,31803566,31775018,31743061,31705726,31640729,31638560,31580894,31572517,31563034,31529350,31481313,31454904,31391289,31271700,31231132,31115488,31095764,31067009,31008103,30982613,30976099,30945312,30931530,30873657,30857461,30817854,30776362,30770273,30746764,30737079,30701557,30690882,30676690,30576498,30530630,30503518,30464053,30454869,30420707,30389790,30304743,30293989,30262252,30194038,30117111,30071302,30061496,30019980,29997612,29947113,29923091,29908352,29907092,29759592,29721919,29709711,29654385,29623892,29492447,29470411,29396028,29361989,29321044,29304374,29261720,29229467,28954837,28932688,28915903,28887793,28848061,28816422,28777499,28733338,28685491,28662078,28649519,28643274,28619360,28617415,28484880,28444691,28425223,28424003,28341975,28323990,28253385,28088503,27923105,27862579,27859789,27788260,27774737,27725718,27502837,27481510,27480077,27415628,27325525,27287710,27053910,26951030,26931382,26892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Results by year

Year	Number of Results
1980	1
1987	2
1990	1
1991	2
1992	5
1993	14
1994	12
1995	18
1996	13
1997	18
1998	29
1999	28
2000	27
2001	38
2002	34
2003	37
2004	27
2005	44
2006	37
2007	44
2008	41
2009	46
2010	27
2011	46
2012	60
2013	60
2014	67
2015	52
2016	63
2017	72
2018	74
2019	91
2020	128
2021	125
2022	115
2023	98
2024	42

1,436 results

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Page 1

Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology.

Ng BG, Freeze HH, Himmelreich N, Blau N, Ferreira CR. Ng BG, et al. Mol Genet Metab. 2024 May;142(1):108476. doi: 10.1016/j.ymgme.2024.108476. Epub 2024 Apr 10. Mol Genet Metab. 2024. PMID: 38653092 Free article. Review.

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.

Fan S, Wu H, Wang R, Chen Q, Zhang X. Fan S, et al. Mol Genet Genomic Med. 2024 Apr;12(4):e2422. doi: 10.1002/mgg3.2422. Mol Genet Genomic Med. 2024. PMID: 38622837 Free PMC article.

Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay.

Wang YC, Niu DM, Chen LZ, Chen YR, Yang CF. Wang YC, et al. Mol Genet Metab Rep. 2024 Mar 22;39:101072. doi: 10.1016/j.ymgmr.2024.101072. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38559322 Free PMC article.

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.

Pascoal C, Francisco R, Mexia P, Pereira BL, Granjo P, Coelho H, Barbosa M, Dos Reis Ferreira V, Videira PA. Pascoal C, et al. Front Immunol. 2024 Mar 14;15:1350101. doi: 10.3389/fimmu.2024.1350101. eCollection 2024. Front Immunol. 2024. PMID: 38550576 Free PMC article. Review.

Glycosphingolipids in congenital disorders of glycosylation (CDG).

Jáñez Pedrayes A, Rymen D, Ghesquière B, Witters P. Jáñez Pedrayes A, et al. Mol Genet Metab. 2024 May;142(1):108434. doi: 10.1016/j.ymgme.2024.108434. Epub 2024 Mar 5. Mol Genet Metab. 2024. PMID: 38489976 Review.

A rare case report of type 1 congenital disorders of glycosylation with acute decompensated heart failure and the incidental discovery of congenital disorders of glycosylation associated dilated cardiomyopathy and acute myocarditis.

Yang WS, Grover S, Smith E, Selvanayagam JB. Yang WS, et al. Eur Heart J Case Rep. 2024 Mar 6;8(3):ytae088. doi: 10.1093/ehjcr/ytae088. eCollection 2024 Mar. Eur Heart J Case Rep. 2024. PMID: 38449779 Free PMC article.

Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS).

Poejo J, Gomes AI, Granjo P, Dos Reis Ferreira V. Poejo J, et al. Orphanet J Rare Dis. 2024 Mar 4;19(1):98. doi: 10.1186/s13023-024-03043-x. Orphanet J Rare Dis. 2024. PMID: 38439013 Free PMC article.

Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector.

Tonin R, Feo F, Falliano S, Ferri L, Giunti L, Calamai M, Procopio E, Mari F, Conti V, Fanelli I, Bambi F, Guerrini R, Morrone A. Tonin R, et al. Stem Cell Res. 2023 Dec;73:103235. doi: 10.1016/j.scr.2023.103235. Epub 2023 Oct 21. Stem Cell Res. 2023. PMID: 38323760 Free article.

Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007-2021).

Zidi W, Hadj-Taieb S, Kraoua I, Hachicha M, Seboui H, Monastiri K, Becher SB, Turki I, Sanhaji H, Tebib N, Kaabachi N, Feki M, Allal-Elasmi M. Zidi W, et al. Arch Pediatr. 2024 Feb;31(2):124-128. doi: 10.1016/j.arcped.2023.10.003. Epub 2024 Jan 22. Arch Pediatr. 2024. PMID: 38262859

Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation.

Sakson R, Beedgen L, Bernhard P, Alp KM, Lübbehusen N, Röth R, Niesler B, Luzarowski M, Shevchuk O, Mayer MP, Thiel C, Ruppert T. Sakson R, et al. Int J Mol Sci. 2024 Jan 18;25(2):1191. doi: 10.3390/ijms25021191. Int J Mol Sci. 2024. PMID: 38256263 Free PMC article.

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