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For: Jaeken J, Péanne R. What is new in CDG? J Inherit Metab Dis 2017;40:569-86. [PMID: 28484880 DOI: 10.1007/s10545-017-0050-6] [Cited by in Crossref: 79] [Cited by in F6Publishing: 66] [Article Influence: 19.8] [Reference Citation Analysis]
Number Citing Articles
1 Makhamreh MM, Cottingham N, Ferreira CR, Berger S, Al-Kouatly HB. Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review. J Inherit Metab Dis 2020;43:223-33. [PMID: 31420886 DOI: 10.1002/jimd.12162] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 5.5] [Reference Citation Analysis]
2 Conte F, van Buuringen N, Voermans NC, Lefeber DJ. Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look. Biochim Biophys Acta Gen Subj 2021;1865:129898. [PMID: 33878388 DOI: 10.1016/j.bbagen.2021.129898] [Reference Citation Analysis]
3 Kemme L, Grüneberg M, Reunert J, Rust S, Park J, Westermann C, Wada Y, Schwartz O, Marquardt T. Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG). JIMD Rep 2021;60:42-55. [PMID: 34258140 DOI: 10.1002/jmd2.12213] [Reference Citation Analysis]
4 Hansen L, Husein DM, Gericke B, Hansen T, Pedersen O, Tambe MA, Freeze HH, Naim HY, Henrissat B, Wandall HH, Clausen H, Bennett EP. A mutation map for human glycoside hydrolase genes. Glycobiology 2020;30:500-15. [PMID: 32039448 DOI: 10.1093/glycob/cwaa010] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
5 Knaus A, Kortüm F, Kleefstra T, Stray-Pedersen A, Đukić D, Murakami Y, Gerstner T, van Bokhoven H, Iqbal Z, Horn D, Kinoshita T, Hempel M, Krawitz PM. Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. Am J Hum Genet 2019;105:395-402. [PMID: 31353022 DOI: 10.1016/j.ajhg.2019.06.009] [Cited by in Crossref: 22] [Cited by in F6Publishing: 15] [Article Influence: 11.0] [Reference Citation Analysis]
6 Larsen KB, Bayat A, Møller RS, Maroun LL, Lund EL. First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene. Neuropathol Appl Neurobiol 2019;45:732-5. [DOI: 10.1111/nan.12557] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
7 Awasthi K, Srivastava A, Bhattacharya S, Bhattacharya A. Tissue specific expression of sialic acid metabolic pathway: role in GNE myopathy. J Muscle Res Cell Motil 2021;42:99-116. [PMID: 33029681 DOI: 10.1007/s10974-020-09590-7] [Reference Citation Analysis]
8 Ben Ayed I, Ouarda W, Frikha F, Kammoun F, Souissi A, Ben Said M, Bouzid A, Elloumi I, Hamdani TM, Gharbi N, Baklouti N, Guirat M, Mejdoub F, Kharrat N, Boujelbene I, Abdelhedi F, Belguith N, Keskes L, Gibriel AA, Kamoun H, Triki C, Alimi AM, Masmoudi S. SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition. Am J Med Genet A 2021;185:1081-90. [PMID: 33403770 DOI: 10.1002/ajmg.a.62065] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
9 Yin S, Gong L, Qiu H, Zhao Y, Zhang Y, Liu C, Jiang H, Mao Y, Kong LY, Liang B, Lv Y. Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: A case report. Exp Ther Med 2019;18:2695-700. [PMID: 31572517 DOI: 10.3892/etm.2019.7834] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
10 Marques-da-Silva D, Francisco R, Dos Reis Ferreira V, Forbat L, Lagoa R, Videira PA, Witters P, Jaeken J, Cassiman D. An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study. JIMD Rep 2019;44:55-64. [PMID: 30008170 DOI: 10.1007/8904_2018_121] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
11 Pascreau T, de la Morena-Barrio ME, Lasne D, Serrano M, Bianchini E, Kossorotoff M, Boddaert N, Bruneel A, Seta N, Vicente V, de Lonlay P, Corral J, Borgel D. Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies. J Thromb Haemost 2019;17:1798-807. [PMID: 31271700 DOI: 10.1111/jth.14559] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
12 Mostile G, Barone R, Nicoletti A, Rizzo R, Martinelli D, Sturiale L, Fiumara A, Jankovic J, Zappia M. Hyperkinetic movement disorders in congenital disorders of glycosylation. Eur J Neurol 2019;26:1226-34. [PMID: 31132195 DOI: 10.1111/ene.14007] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 4.5] [Reference Citation Analysis]
13 Paprocka J, Jezela-Stanek A, Tylki-Szymańska A, Grunewald S. Congenital Disorders of Glycosylation from a Neurological Perspective. Brain Sci 2021;11:88. [PMID: 33440761 DOI: 10.3390/brainsci11010088] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
14 Cardão C, Barros L, Francisco R, Silva D, Ferreira VR. Experiences of parents with children with congenital disorders of glycosylation: What can we learn from them? Disabil Health J 2021;14:101065. [PMID: 33531289 DOI: 10.1016/j.dhjo.2021.101065] [Reference Citation Analysis]
15 Kim YM, Seo GH, Jung E, Jang JH, Kim SZ, Lee BH. Characteristic dysmorphic features in congenital disorders of glycosylation type IIb. J Hum Genet 2018;63:383-6. [PMID: 29235540 DOI: 10.1038/s10038-017-0386-7] [Cited by in Crossref: 11] [Cited by in F6Publishing: 6] [Article Influence: 2.8] [Reference Citation Analysis]
16 Verheijen J, Tahata S, Kozicz T, Witters P, Morava E. Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update. Genet Med. 2020;22:268-279. [PMID: 31534212 DOI: 10.1038/s41436-019-0647-2] [Cited by in Crossref: 18] [Cited by in F6Publishing: 15] [Article Influence: 9.0] [Reference Citation Analysis]
17 Paprocka J, Jezela-Stanek A, Boguszewicz Ł, Sokół M, Lipiński P, Jamroz E, Emich-Widera E, Tylki-Szymańska A. The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant. Children (Basel) 2021;8:251. [PMID: 33807002 DOI: 10.3390/children8030251] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
18 Brasil S, Pascoal C, Francisco R, Marques-da-Silva D, Andreotti G, Videira PA, Morava E, Jaeken J, Dos Reis Ferreira V. CDG Therapies: From Bench to Bedside. Int J Mol Sci 2018;19:E1304. [PMID: 29702557 DOI: 10.3390/ijms19051304] [Cited by in Crossref: 47] [Cited by in F6Publishing: 30] [Article Influence: 15.7] [Reference Citation Analysis]
19 Witters P, Cassiman D, Morava E. Nutritional Therapies in Congenital Disorders of Glycosylation (CDG). Nutrients 2017;9:E1222. [PMID: 29112118 DOI: 10.3390/nu9111222] [Cited by in Crossref: 25] [Cited by in F6Publishing: 21] [Article Influence: 6.3] [Reference Citation Analysis]
20 Breuer M, Patten SA. A Great Catch for Investigating Inborn Errors of Metabolism-Insights Obtained from Zebrafish. Biomolecules 2020;10:E1352. [PMID: 32971894 DOI: 10.3390/biom10091352] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
21 Regan P, McClean PL, Smyth T, Doherty M. Early Stage Glycosylation Biomarkers in Alzheimer's Disease. Medicines (Basel) 2019;6:E92. [PMID: 31484367 DOI: 10.3390/medicines6030092] [Cited by in Crossref: 12] [Cited by in F6Publishing: 8] [Article Influence: 6.0] [Reference Citation Analysis]
22 Lipiński P, Bogdańska A, Socha P, Tylki-Szymańska A. Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation. Front Pediatr 2021;9:696918. [PMID: 34291020 DOI: 10.3389/fped.2021.696918] [Reference Citation Analysis]
23 Peron A, Iascone M, Salvatici E, Cavirani B, Marchetti D, Corno S, Vignoli A. PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature. Am J Med Genet A 2020;182:1477-82. [PMID: 32198969 DOI: 10.1002/ajmg.a.61555] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
24 Brasil S, Pascoal C, Francisco R, Dos Reis Ferreira V, Videira PA, Valadão AG. Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter? Genes (Basel) 2019;10:E978. [PMID: 31783696 DOI: 10.3390/genes10120978] [Cited by in Crossref: 21] [Cited by in F6Publishing: 11] [Article Influence: 10.5] [Reference Citation Analysis]
25 Ng BG, Freeze HH. Perspectives on Glycosylation and Its Congenital Disorders. Trends Genet 2018;34:466-76. [PMID: 29606283 DOI: 10.1016/j.tig.2018.03.002] [Cited by in Crossref: 108] [Cited by in F6Publishing: 86] [Article Influence: 36.0] [Reference Citation Analysis]
26 Houdou M, Foulquier F. Anomalies congénitales de la glycosylation (CDG): 1980-2020, 40 ans pour comprendre. Med Sci (Paris) 2020;36:735-46. [DOI: 10.1051/medsci/2020128] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
27 Francisco R, Pascoal C, Marques‐da‐silva D, Morava E, Gole GA, Coman D, Jaeken J, dos Reis Ferreira V. Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review. Jrnl of Inher Metab Disea 2019;42:29-48. [DOI: 10.1002/jimd.12025] [Cited by in Crossref: 5] [Cited by in F6Publishing: 7] [Article Influence: 2.5] [Reference Citation Analysis]
28 Ferreira CR, van Karnebeek CDM. Inborn errors of metabolism. Handb Clin Neurol 2019;162:449-81. [PMID: 31324325 DOI: 10.1016/B978-0-444-64029-1.00022-9] [Cited by in Crossref: 17] [Cited by in F6Publishing: 7] [Article Influence: 17.0] [Reference Citation Analysis]
29 Gadomski TE, Bolton M, Alfadhel M, Dvorak C, Ogunsakin OA, Nelson SL, Morava E. ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing. Am J Med Genet 2017;173:2772-5. [DOI: 10.1002/ajmg.a.38377] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.5] [Reference Citation Analysis]
30 Lebredonchel E, Houdou M, Potelle S, de Bettignies G, Schulz C, Krzewinski Recchi MA, Lupashin V, Legrand D, Klein A, Foulquier F. Dissection of TMEM165 function in Golgi glycosylation and its Mn2+ sensitivity. Biochimie 2019;165:123-30. [PMID: 31351090 DOI: 10.1016/j.biochi.2019.07.016] [Cited by in Crossref: 8] [Cited by in F6Publishing: 10] [Article Influence: 4.0] [Reference Citation Analysis]
31 Akasaka-Manya K, Manya H. The Role of APP O-Glycosylation in Alzheimer's Disease. Biomolecules 2020;10:E1569. [PMID: 33218200 DOI: 10.3390/biom10111569] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 5.0] [Reference Citation Analysis]
32 Guerrero RB, Salazar D, Tanpaiboon P. Laboratory diagnostic approaches in metabolic disorders. Ann Transl Med 2018;6:470. [PMID: 30740401 DOI: 10.21037/atm.2018.11.05] [Cited by in Crossref: 11] [Cited by in F6Publishing: 7] [Article Influence: 3.7] [Reference Citation Analysis]
33 Chen J, Li X, Edmondson A, Meyers GD, Izumi K, Ackermann AM, Morava E, Ficicioglu C, Bennett MJ, He M. Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry. Clin Chem 2019;65:653-63. [PMID: 30770376 DOI: 10.1373/clinchem.2018.296780] [Cited by in Crossref: 16] [Cited by in F6Publishing: 11] [Article Influence: 8.0] [Reference Citation Analysis]
34 Dimitrov B, Himmelreich N, Hipgrave Ederveen AL, Lüchtenborg C, Okun JG, Breuer M, Hutter AM, Carl M, Guglielmi L, Hellwig A, Thiemann KC, Jost M, Peters V, Staufner C, Hoffmann GF, Hackenberg A, Paramasivam N, Wiemann S, Eils R, Schlesner M, Strahl S, Brügger B, Wuhrer M, Christoph Korenke G, Thiel C. Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. Mol Genet Metab 2018;123:364-74. [PMID: 29396028 DOI: 10.1016/j.ymgme.2018.01.008] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
35 Kohda D. Structural Basis of Protein Asn-Glycosylation by Oligosaccharyltransferases. Adv Exp Med Biol 2018;1104:171-99. [PMID: 30484249 DOI: 10.1007/978-981-13-2158-0_9] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 3.5] [Reference Citation Analysis]
36 İnci A, Cengiz B, Biberoğlu G, Okur İ, Arhan E, Öner AY, Kasapkara ÇS, Küçükçongar A, Tümer L, Ezgu F. Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features. Am J Med Genet A 2021;185:2739-47. [PMID: 33960646 DOI: 10.1002/ajmg.a.62247] [Reference Citation Analysis]
37 Sturiale L, Nassogne MC, Palmigiano A, Messina A, Speciale I, Artuso R, Bertino G, Revencu N, Stephénne X, De Castro C, Matthijs G, Barone R, Jaeken J, Garozzo D. Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis. iScience 2021;24:102323. [PMID: 33889819 DOI: 10.1016/j.isci.2021.102323] [Reference Citation Analysis]
38 Vicogne D, Houdou M, Garat A, Climer L, Lupashin V, Morelle W, Foulquier F. Fetal bovine serum impacts the observed N-glycosylation defects in TMEM165 KO HEK cells. J Inherit Metab Dis 2020;43:357-66. [PMID: 31415112 DOI: 10.1002/jimd.12161] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
39 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. The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG. Am J Hum Genet 2019;104:835-46. [PMID: 30982613 DOI: 10.1016/j.ajhg.2019.03.003] [Cited by in Crossref: 25] [Cited by in F6Publishing: 19] [Article Influence: 12.5] [Reference Citation Analysis]
40 Abu Bakar N, Lefeber DJ, van Scherpenzeel M. Clinical glycomics for the diagnosis of congenital disorders of glycosylation. J Inherit Metab Dis 2018;41:499-513. [PMID: 29497882 DOI: 10.1007/s10545-018-0144-9] [Cited by in Crossref: 28] [Cited by in F6Publishing: 20] [Article Influence: 9.3] [Reference Citation Analysis]
41 Schjoldager KT, Narimatsu Y, Joshi HJ, Clausen H. Global view of human protein glycosylation pathways and functions. Nat Rev Mol Cell Biol 2020;21:729-49. [PMID: 33087899 DOI: 10.1038/s41580-020-00294-x] [Cited by in Crossref: 71] [Cited by in F6Publishing: 46] [Article Influence: 71.0] [Reference Citation Analysis]
42 Ng BG, Xu G, Chandy N, Steyermark J, Shinde DN, Radtke K, Raymond K, Lebrilla CB, AlAsmari A, Suchy SF, Powis Z, Faqeih EA, Berry SA, Kronn DF, Freeze HH. Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. Am J Hum Genet 2018;102:188-95. [PMID: 29304374 DOI: 10.1016/j.ajhg.2017.12.009] [Cited by in Crossref: 27] [Cited by in F6Publishing: 17] [Article Influence: 9.0] [Reference Citation Analysis]
43 Beecroft SJ, Lombard M, Mowat D, McLean C, Cairns A, Davis M, Laing NG, Ravenscroft G. Genetics of neuromuscular fetal akinesia in the genomics era. J Med Genet 2018;55:505-14. [PMID: 29959180 DOI: 10.1136/jmedgenet-2018-105266] [Cited by in Crossref: 19] [Cited by in F6Publishing: 15] [Article Influence: 6.3] [Reference Citation Analysis]
44 Wilson MP, Matthijs G. The evolving genetic landscape of congenital disorders of glycosylation. Biochim Biophys Acta Gen Subj 2021;1865:129976. [PMID: 34358634 DOI: 10.1016/j.bbagen.2021.129976] [Reference Citation Analysis]
45 Medina-Cano D, Ucuncu E, Nguyen LS, Nicouleau M, Lipecka J, Bizot JC, Thiel C, Foulquier F, Lefort N, Faivre-Sarrailh C, Colleaux L, Guerrera IC, Cantagrel V. High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect. Elife 2018;7:e38309. [PMID: 30311906 DOI: 10.7554/eLife.38309] [Cited by in Crossref: 22] [Cited by in F6Publishing: 10] [Article Influence: 7.3] [Reference Citation Analysis]
46 Papazoglu GM, Cubilla M, Pereyra M, de Kremer RD, Pérez B, Sturiale L, Asteggiano CG. Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis. Glycoconj J 2021;38:191-200. [PMID: 33644825 DOI: 10.1007/s10719-021-09976-w] [Reference Citation Analysis]
47 Yang X, Lv Z, Tang Q, Chen X, Huang L, Yang M, Lan L, Shan Q. Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report. WJCC 2021;9:7876-85. [DOI: 10.12998/wjcc.v9.i26.7876] [Reference Citation Analysis]
48 Zilmer M, Edmondson AC, Khetarpal SA, Alesi V, Zaki MS, Rostasy K, Madsen CG, Lepri FR, Sinibaldi L, Cusmai R, Novelli A, Issa MY, Fenger CD, Abou Jamra R, Reutter H, Briuglia S, Agolini E, Hansen L, Petäjä-Repo UE, Hintze J, Raymond KM, Liedtke K, Stanley V, Musaev D, Gleeson JG, Vitali C, O'Brien WT, Gardella E, Rubboli G, Rader DJ, Schjoldager KT, Møller RS. Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain 2020;143:1114-26. [PMID: 32293671 DOI: 10.1093/brain/awaa063] [Cited by in Crossref: 15] [Cited by in F6Publishing: 11] [Article Influence: 15.0] [Reference Citation Analysis]
49 Ismail FY, Mitoma H, Fatemi A. Metabolic ataxias. Handb Clin Neurol 2018;155:117-27. [PMID: 29891054 DOI: 10.1016/B978-0-444-64189-2.00008-1] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
50 Boon L, Ugarte-Berzal E, Martens E, Vandooren J, Rybakin V, Colau D, Gordon-Alonso M, van der Bruggen P, Stöcker W, Becker-Pauly C, Witters P, Morava E, Jaeken J, Proost P, Opdenakker G. Propeptide glycosylation and galectin-3 binding decrease proteolytic activation of human proMMP-9/progelatinase B. FEBS J 2019;286:930-45. [PMID: 30422384 DOI: 10.1111/febs.14698] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
51 Altassan R, Witters P, Saifudeen Z, Quelhas D, Jaeken J, Levtchenko E, Cassiman D, Morava E. Renal involvement in PMM2-CDG, a mini-review. Molecular Genetics and Metabolism 2018;123:292-6. [DOI: 10.1016/j.ymgme.2017.11.012] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 3.7] [Reference Citation Analysis]
52 Duvet S, Mouajjah D, Péanne R, Matthijs G, Raymond K, Jaeken J, Morava E, Foulquier F. Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients. Electrophoresis 2018;39:3133-41. [PMID: 29947113 DOI: 10.1002/elps.201800020] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 2.3] [Reference Citation Analysis]
53 Lebredonchel E, Houdou M, Hoffmann HH, Kondratska K, Krzewinski MA, Vicogne D, Rice CM, Klein A, Foulquier F. Investigating the functional link between TMEM165 and SPCA1. Biochem J 2019;476:3281-93. [PMID: 31652305 DOI: 10.1042/BCJ20190488] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
54 Ferreira CR, Altassan R, Marques-Da-Silva D, Francisco R, Jaeken J, Morava E. Recognizable phenotypes in CDG. J Inherit Metab Dis 2018;41:541-53. [PMID: 29654385 DOI: 10.1007/s10545-018-0156-5] [Cited by in Crossref: 44] [Cited by in F6Publishing: 40] [Article Influence: 14.7] [Reference Citation Analysis]
55 Joshi HJ, Hansen L, Narimatsu Y, Freeze HH, Henrissat B, Bennett E, Wandall HH, Clausen H, Schjoldager KT. Glycosyltransferase genes that cause monogenic congenital disorders of glycosylation are distinct from glycosyltransferase genes associated with complex diseases. Glycobiology 2018;28:284-94. [PMID: 29579191 DOI: 10.1093/glycob/cwy015] [Cited by in Crossref: 26] [Cited by in F6Publishing: 21] [Article Influence: 8.7] [Reference Citation Analysis]
56 Kingma HA, van der Sluijs FH, Heiner-Fokkema MR. Fast screening of N-glycosylation disorders by sialotransferrin profiling with capillary zone electrophoresis. Ann Clin Biochem 2018;55:693-701. [PMID: 29792046 DOI: 10.1177/0004563218779609] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
57 Diamanti A, Calvitti G, Martinelli D, Santariga E, Capriati T, Bolasco G, Iughetti L, Pujia A, Knafelz D, Maggiore G. Etiology and Management of Pediatric Intestinal Failure: Focus on the Non-Digestive Causes. Nutrients 2021;13:786. [PMID: 33673586 DOI: 10.3390/nu13030786] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
58 Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK. ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. J Inherit Metab Dis 2021;44:1001-12. [PMID: 33734437 DOI: 10.1002/jimd.12378] [Reference Citation Analysis]
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