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ALG1-CDG: clinical and molecular characterization of 39 unreported patients

(2016) HUMAN MUTATION. 37(7). p.653-660
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Keywords
asparagine-linked glycosylation protein 1, CDG, carbohydrate-deficient transferrin, xeno-tetrasaccharide, GLYCOSYLATION TYPE-IK, ASPARAGINE-LINKED GLYCOSYLATION, CAUSES CONGENITAL-DISORDER, N-GLYCOSYLATION, MANNOSYLTRANSFERASE, MUTATIONS, DEFICIENCY, PATHWAY, ALG2

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Citation

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Chicago
Ng, Bobby G, Sergey A Shiryaev, Daisy Rymen, Erik A Eklund, Kimiyo Raymond, Martin Kircher, Jose E Abdenur, et al. 2016. “ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.” Human Mutation 37 (7): 653–660.
APA
Ng, B. G., Shiryaev, S. A., Rymen, D., Eklund, E. A., Raymond, K., Kircher, M., Abdenur, J. E., et al. (2016). ALG1-CDG: clinical and molecular characterization of 39 unreported patients. HUMAN MUTATION, 37(7), 653–660.
Vancouver
1.
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, et al. ALG1-CDG: clinical and molecular characterization of 39 unreported patients. HUMAN MUTATION. 2016;37(7):653–60.
MLA
Ng, Bobby G, Sergey A Shiryaev, Daisy Rymen, et al. “ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.” HUMAN MUTATION 37.7 (2016): 653–660. Print.
@article{8074026,
  author       = {Ng, Bobby G and Shiryaev, Sergey A and Rymen, Daisy and Eklund, Erik A and Raymond, Kimiyo and Kircher, Martin and Abdenur, Jose E and Alehan, Fusun and Midro, Alina T and Bamshad, Michael J and Barone, Rita and Berry, Gerard T and Brumbaugh, Jane E and Buckingham, Kati J and Clarkson, Katie and Cole, F Sessions and O'Connor, Shawn and Cooper, Gregory M and Van Coster, Rudy and Demmer, Laurie A and Diogo, Luisa and Fay, Alexander J and Ficicioglu, Can and Fiumara, Agata and Gahl, William A and Ganetzky, Rebecca and Goel, Himanshu and Harshman, Lyndsay A and He, Miao and Jaeken, Jaak and James, Philip M and Katz, Daniel and Keldermans, Liesbeth and Kibaek, Maria and Kornberg, Andrew J and Lachlan, Katherine and Lam, Christina and Yaplito-Lee, Joy and Nickerson, Deborah A and Peters, Heidi L and Race, Valerie and R{\'e}gal, Luc and Rush, Jeffrey S and Rutledge, S Lane and Shendure, Jay and Souche, Erika and Sparks, Susan E and Trapane, Pamela and Sanchez-Valle, Amarilis and Vilain, Eric and V{\o}llo, Arve and Waechter, Charles J and Wang, Raymond Y and Wolfe, Lynne A and Wong, Derek A and Wood, Tim and Yang, Amy C and Matthijs, Gert and Freeze, Hudson H},
  issn         = {1059-7794},
  journal      = {HUMAN MUTATION},
  keyword      = {asparagine-linked glycosylation protein 1,CDG,carbohydrate-deficient transferrin,xeno-tetrasaccharide,GLYCOSYLATION TYPE-IK,ASPARAGINE-LINKED GLYCOSYLATION,CAUSES CONGENITAL-DISORDER,N-GLYCOSYLATION,MANNOSYLTRANSFERASE,MUTATIONS,DEFICIENCY,PATHWAY,ALG2},
  language     = {eng},
  number       = {7},
  pages        = {653--660},
  title        = {ALG1-CDG: clinical and molecular characterization of 39 unreported patients},
  url          = {http://dx.doi.org/10.1002/humu.22983},
  volume       = {37},
  year         = {2016},
}

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