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Wiley电子期刊(6)	SpringerLink电子期刊(89)	ACS电子期刊(5)
Springer电子图书(4)	Elsevier电子期刊(174)

在“Elsevier电子期刊”中，命中：174条，耗时：0.0229888 秒

在所有数据库中总计命中：278条

1.Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

作者：Wendy E. Heywood^a ; ^b ; ^{wendy.heywood@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; Emily Bliss^a ; ^b ; Philippa Mills^a ; ^b ; Jale Yuzugulen^a ; Gabriela Carreno^a ; Peter T. Clayton^a ; ^b ; Francesco Muntoni^c ; Viki C. Worthington^d ; Silvia Torelli^c ; Neil J. Sebire^e ; Kevin Mills^a ; ^b ; ¹ ; Stephanie Grunewald^a ; ^b ; ¹

关键词：2D DIGE ; 2-dimensional differential gel expression ; CDG ; Congenital Disorders of Glycosylation ; TFN ; transferrin ; MD ; muscular dystrophy ; IEF ; isoelectric focusing ; MW ; molecular weight ; COG ; conserved oligomeric golgi

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

2.Inflammatory glycoproteins in cardiometabolic disorders, autoimmune diseases and cancer

作者：Margery A. Connelly^a ; Eke G. Gruppen^b ; ^c ; James D. Otvos^a ; Robin P.F. Dullaart^b ; ^{r.p.f.dullaart@umcg.nl" class="auth_mail" title="E-mail the corresponding author}

关键词：2-AB ; 2-aminobanzamide ; AFP ; α-fetoprotein ; AGP ; α1-acid glycoprotein ; BMI ; body mass index ; CDG ; congenital disorders of glycosylation ; CEA ; carcinoembryonic antigen ; CRP ; C-reactive protein ; CVD ; cardiovascular disease ; DAS28 ; Disease Activity Score based on 28 joints ; ELISA ; enzyme-linked immunosorbent assay ; ESR ; erythrocyte sedimentation rate ; GlcNAc ; N-acetylglucosamine ; GWAS ; genome-wide association studies ; HCC ; hepatocarcinoma ; hsCRP ; high-sensitivity C-reactive protein ; HILIC ; hydrophi

刊名：Clinica Chimica Acta

出版年：2016

3.Glycosylation Quality Control by the Golgi Structure

作者：Xiaoyan Zhang¹ ; Yanzhuang Wang¹ ; ² ; ^{yzwang@umich.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：CDG ; congenital disorders of glycosylation ; COG ; conserved oligomeric Golgi ; ER ; endoplasmic reticulum ; GAG ; glycosaminoglycan ; GlcNAc ; β-N-acetylglucosamine ; LLO ; lipid-linked oligosaccharide ; RNAi ; RNA interference ; TGN ; trans-Golgi network

刊名：Journal of Molecular Biology

出版年：2016

4.High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation

作者：Monique van Scherpenzeel^a ; ^b ; ^{monique.vanscherpenzeel@radboudumc.nl" class="auth_mail" title="E-mail the corresponding author} ; Gerry Steenbergen^a ; Eva Morava^b ; ^c ; Ron A. Wevers^a ; Dirk J. Lefeber^a ; ^b

关键词：ApoCIII ; apolipoprotein CIII ; ATP6V0A2 ; ATPase ; H+ transporting ; lysosomal V0 subunit a2 ; B4GALT1 ; β-1 ; 4-galactosyltransferase 1 ; CDG ; Congenital Disorders of Glycosylation ; CE ; Capillary electrophoresis ; CMP ; cytidine monophosphate ; COG1 ; component of oligomeric Golgi complex 1 ; CV ; Coefficient of variation ; DPAGT1 ; dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 ; EDTA ; Ethylenediaminetetraacetic acid ; ESI ; Electron spray ionization ; GDP ; guanosine diphospha

刊名：Translational Research

出版年：2015

5.Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

作者：Aleksandra Jezela-Stanek^a ; ⁱ ; ^{jezela@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Elżbieta Ciara^a ; ⁱ ; Dorota Piekutowska-Abramczuk^a ; ⁱ ; Joanna Trubicka^a ; Elżbieta Jurkiewicz^b ; Dariusz Rokicki^c ; Hanna Mierzewska^d ; Justyna Spychalska^e ; Małgorzata Uhrynowska^e ; Marta Szwarc-Bronikowska^c ; Piotr Buda^c ; Abdul Rahim Said^f ; Ewa Jamroz^g ; Małgorzata Rydzanicz^h ; Rafał Płoski^h ; Małgorzata Krajewska-Walasek^a ; Ewa Pronicka^a ; ^c

关键词：GPI-anchor deficiency ; PGAP2 gene ; PIGN gene ; Congenital disorders of glycosylation ; Flow cytometry

刊名：European Journal of Paediatric Neurology

出版年：2016

6.Genetic defects in the hexosamine and sialic acid biosynthesis pathway

作者：Anke P. Willems^a ; ^b ; Baziel G.M. van Engelen^a ; Dirk J. Lefeber^a ; ^b ; ^{Dirk.Lefeber@radboudumc.nl" class="auth_mail" title="E-mail the corresponding author}

关键词：AChE ; Acetylcholinesterase ; AChR ; Acetylcholine Receptor ; ALG13 ; 14 ; UDP-N-acetylglucosaminyltransferase subunit 13 ; 14 ; AMDHD2 ; Amidohydrolase domain containing 2 ; ATP ; Adenosine triphosphate ; Aβ ; Amyloid β ; CDG ; Congenital disorders of glycosylation ; CMAS ; Cytidine monophosphate N-acetylneuraminic acid synthetase ; CMP ; Cytidine monophosphate ; CMS ; Congenital myasthenic syndrome ; CTP ; Cytidine triphosphate ; DMRV ; Distal myopathy with rimmed vacuoles ; DPAGT1 ; Dolichyl-phosphate (UDP-N-acetylgluco

刊名：Biochimica et Biophysica Acta (BBA) - General Subjects

出版年：2016

7.The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

作者：William A. Gahl^a ; John J. Mulvihill^a ; ^b ; ^{John.Mulvihill@nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Camilo Toro^a ; Thomas C. Markello^a ; Anastasia L. Wise^a ; Rachel B. Ramoni^c ; David R. Adams^a ; Cynthia J. Tifft^a ; for Members of the UDN¹

关键词：ACDC ; arterial calcification due to deficiency of CD73 ; ALP ; alkaline phosphatase ; DEXA ; dual-energy X-ray absorptiometry ; FGF23 ; fibroblast growth factor 23 ; GALNT3 ; polypeptide N-acetylgalactosaminyltransferase 3 ; HPO ; Human Phenotype Ontology ; IgA ; immunoglobulin A ; IgG ; immunoglobulin G ; IgM ; immunoglobulin M ; MRI ; magnetic resonance imaging ; MOGS-CDG ; mannosyl-oligosaccharide glycosidase-congenital disorder of glycosylation type IIb ; NHGRI ; National Human Genome Research Institute ; NIH ; Nat

刊名：Molecular Genetics and Metabolism

出版年：2016

8.212th ENMC International Workshop:: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015

作者：M. Saunier^a ; C.G. Bö ; nnemann^b ; ¹ ; M. Durbeej^c ; ¹ ; V. Allamand^a ; ¹ ; ^{v.allamand@institut-myologie.org" class="auth_mail" title="E-mail the corresponding author} ; on behalf of the CMD Animal Model ConsortiumValé ; rie Allamand^d ; Paolo Bonaldo^e ; Carsten Bö ; nnemann^f ; Susan Brown^g ; Dean Burkin^h ; Kevin P. Campbellⁱ ; Madeleine Durbeej-Hjalt^j ; Mahasweta Girgenrath^k ; Yoram Nevo^l ; Markus Ruegg^m ; Margot Saunierⁿ ; Tatsushi Toda^o ; Raffaella Willmann^p

刊名：Neuromuscular Disorders

出版年：2016

9.Key features and clinical variability of COG6-CDG

作者：Daisy Rymen^a ; ^d ; Julia Winter^b ; Peter M. Van Hasselt^c ; Jaak Jaeken^d ; Cigdem Kasapkara^e ; Gulden Gokç ; ay^f ; Hanneke Haijes^c ; Philippe Goyens^g ; Aysegul Tokatli^h ; Christian Thielⁱ ; Oliver Bartsch^j ; Jochen Hecht^k ; Peter Krawitz^l ; Hubertus C.M.T. Prinsen^m ; Eva Mildenberger^b ; Gert Matthijs^a ; Uwe Kornak^k ; ^l ; ⁿ ; ^{uwe.kornak@charite.de" class="auth_mail" title="E-mail the corresponding author}

关键词：ALP ; alkaline phosphatase ; αFP ; alpha fetoprotein ; ASD ; atrial septum defect ; BAEP ; auditory evoked brain stem potential ; CDG ; congenital disorder(s) of glycosylation ; CHO ; Chinese hamster ovary ; CK ; creatine kinase ; CMV ; cytomegalovirus ; COG ; conserved oligomeric Golgi complex ; COP1 ; coat protein complex 1 ; CSF ; cerebrospinal fluid ; DIC ; diffuse intravascular coagulation ; ER ; endoplasmic reticulum ; FXI ; coagulation factor XI ; IEF ; isoelectric focusing ; MG ; electromyography ; PDA ; patent ductus a

刊名：Molecular Genetics and Metabolism

出版年：2015

10.Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation

作者：Baoyun Xia ; Wenyue Zhang ; Xueli Li ; Rong Jiang ; Tisa Harper ; Renpeng Liu ; Richard D. Cummings ; Miao He

关键词：N-glycan ; O-glycan ; MALDI&ndash ; TOF/MS ; LC&ndash ; MS/MS ; Permethylation ; Congenital disorders of glycosylation

刊名：Analytical Biochemistry

出版年：2013

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