ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Bobby G. Ng; Sergey A. Shiryaev; Daisy Rymen; Erik A. Eklund; Kimiyo Raymond; Martin Kircher; Jose E. Abdenur; Fusun Alehan; Alina T. Midro; Michael J. Bamshad; Rita Barone; Gerard T. Berry; Jane E. Brumbaugh; Kati J. Buckingham; Katie Clarkson; F. Sessions Cole; Shawn O'Connor; Gregory M. Cooper; Rudy Van Coster; Laurie A. Demmer; Luisa Diogo; Alexander J. Fay; Can Ficicioglu; Agata Fiumara; William A. Gahl; Rebecca Ganetzky; Himanshu Goel; Lyndsay A. Harshman; Miao He; Jaak Jaeken; Philip M. James; Daniel Katz; Liesbeth Keldermans; Maria Kibaek; Andrew J. Kornberg; Katherine Lachlan; Christina Lam; Joy Yaplito-Lee; Deborah A. Nickerson; Heidi L. Peters; Valerie Race; Luc Regal; Jeffrey S. Rush; S. Lane Rutledge; Jay Shendure; Erika Souche; Susan E. Sparks; Pamela Trapane; Amarilis Sanchez-Valle; Eric Vilain; Arve Vollo; Charles J. Waechter; Raymond Y. Wang; Lynne A. Wolfe; Derek A. Wong; Tim Wood; Amy C. Yang; Univ Washington; Gert Matthijs; Hudson H. Freeze

doi:10.1002/humu.22983

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, Jose E. Abdenur, Fusun Alehan, Alina T. Midro, Michael J. Bamshad, Rita Barone, Gerard T. Berry, Jane E. Brumbaugh, Kati J. Buckingham, Katie Clarkson, F. Sessions Cole, Shawn O'Connor, Gregory M. Cooper, Rudy Van Coster, Laurie A. DemmerLuisa Diogo, Alexander J. Fay, Can Ficicioglu, Agata Fiumara, William A. Gahl, Rebecca Ganetzky, Himanshu Goel, Lyndsay A. Harshman, Miao He, Jaak Jaeken, Philip M. James, Daniel Katz, Liesbeth Keldermans, Maria Kibaek, Andrew J. Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito-Lee, Deborah A. Nickerson, Heidi L. Peters, Valerie Race, Luc Regal, Jeffrey S. Rush, S. Lane Rutledge, Jay Shendure, Erika Souche, Susan E. Sparks, Pamela Trapane, Amarilis Sanchez-Valle, Eric Vilain, Arve Vollo, Charles J. Waechter, Raymond Y. Wang, Lynne A. Wolfe, Derek A. Wong, Tim Wood, Amy C. Yang, Univ Washington, Gert Matthijs, Hudson H. Freeze

Pediatrie (kind)

Onderzoeksoutput: Article › peer review

51 Citaten (Scopus)

Originele taal-2	English
Pagina's (van-tot)	653-660
Aantal pagina's	8
Tijdschrift	Human Mutation
Volume	37
Nummer van het tijdschrift	7
DOI's	https://doi.org/10.1002/humu.22983
Status	Published - jul. 2016

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Ng, B. G., Shiryaev, S. A., Rymen, D., Eklund, E. A., Raymond, K., Kircher, M., Abdenur, J. E., Alehan, F., Midro, A. T., Bamshad, M. J., Barone, R., Berry, G. T., Brumbaugh, J. E., Buckingham, K. J., Clarkson, K., Cole, F. S., O'Connor, S., Cooper, G. M., Van Coster, R., ... Freeze, H. H. (2016). ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Human Mutation, 37(7), 653-660. https://doi.org/10.1002/humu.22983

@article{13de78b5f7fe43f8b42b1a03035e7004,

title = "ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients",

keywords = "CDG, asparagine-linked glycosylation protein 1, carbohydrate-deficient transferrin, xeno-tetrasaccharide",

author = "Ng, {Bobby G.} and Shiryaev, {Sergey A.} and Daisy Rymen and Eklund, {Erik A.} and Kimiyo Raymond and Martin Kircher and Abdenur, {Jose E.} and Fusun Alehan and Midro, {Alina T.} and Bamshad, {Michael J.} and Rita Barone and Berry, {Gerard T.} and Brumbaugh, {Jane E.} and Buckingham, {Kati J.} and Katie Clarkson and Cole, {F. Sessions} and Shawn O'Connor and Cooper, {Gregory M.} and {Van Coster}, Rudy and Demmer, {Laurie A.} and Luisa Diogo and Fay, {Alexander J.} and Can Ficicioglu and Agata Fiumara and Gahl, {William A.} and Rebecca Ganetzky and Himanshu Goel and Harshman, {Lyndsay A.} and Miao He and Jaak Jaeken and James, {Philip M.} and Daniel Katz and Liesbeth Keldermans and Maria Kibaek and Kornberg, {Andrew J.} and Katherine Lachlan and Christina Lam and Joy Yaplito-Lee and Nickerson, {Deborah A.} and Peters, {Heidi L.} and Valerie Race and Luc Regal and Rush, {Jeffrey S.} and Rutledge, {S. Lane} and Jay Shendure and Erika Souche and Sparks, {Susan E.} and Pamela Trapane and Amarilis Sanchez-Valle and Eric Vilain and Arve Vollo and Waechter, {Charles J.} and Wang, {Raymond Y.} and Wolfe, {Lynne A.} and Wong, {Derek A.} and Tim Wood and Yang, {Amy C.} and Univ Washington and Gert Matthijs and Freeze, {Hudson H.}",

year = "2016",

month = jul,

doi = "10.1002/humu.22983",

language = "English",

volume = "37",

pages = "653--660",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley-Liss Inc.",

number = "7",

}

Ng, BG, Shiryaev, SA, Rymen, D, Eklund, EA, Raymond, K, Kircher, M, Abdenur, JE, Alehan, F, Midro, AT, Bamshad, MJ, Barone, R, Berry, GT, Brumbaugh, JE, Buckingham, KJ, Clarkson, K, Cole, FS, O'Connor, S, Cooper, GM, Van Coster, R, Demmer, LA, Diogo, L, Fay, AJ, Ficicioglu, C, Fiumara, A, Gahl, WA, Ganetzky, R, Goel, H, Harshman, LA, He, M, Jaeken, J, James, PM, Katz, D, Keldermans, L, Kibaek, M, Kornberg, AJ, Lachlan, K, Lam, C, Yaplito-Lee, J, Nickerson, DA, Peters, HL, Race, V, Regal, L, Rush, JS, Rutledge, SL, Shendure, J, Souche, E, Sparks, SE, Trapane, P, Sanchez-Valle, A, Vilain, E, Vollo, A, Waechter, CJ, Wang, RY, Wolfe, LA, Wong, DA, Wood, T, Yang, AC, Washington, U, Matthijs, G & Freeze, HH 2016, 'ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients', Human Mutation, vol. 37, nr. 7, blz. 653-660. https://doi.org/10.1002/humu.22983

TY - JOUR

T1 - ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

AU - Ng, Bobby G.

AU - Shiryaev, Sergey A.

AU - Rymen, Daisy

AU - Eklund, Erik A.

AU - Raymond, Kimiyo

AU - Kircher, Martin

AU - Abdenur, Jose E.

AU - Alehan, Fusun

AU - Midro, Alina T.

AU - Bamshad, Michael J.

AU - Barone, Rita

AU - Berry, Gerard T.

AU - Brumbaugh, Jane E.

AU - Buckingham, Kati J.

AU - Clarkson, Katie

AU - Cole, F. Sessions

AU - O'Connor, Shawn

AU - Cooper, Gregory M.

AU - Van Coster, Rudy

AU - Demmer, Laurie A.

AU - Diogo, Luisa

AU - Fay, Alexander J.

AU - Ficicioglu, Can

AU - Fiumara, Agata

AU - Gahl, William A.

AU - Ganetzky, Rebecca

AU - Goel, Himanshu

AU - Harshman, Lyndsay A.

AU - He, Miao

AU - Jaeken, Jaak

AU - James, Philip M.

AU - Katz, Daniel

AU - Keldermans, Liesbeth

AU - Kibaek, Maria

AU - Kornberg, Andrew J.

AU - Lachlan, Katherine

AU - Lam, Christina

AU - Yaplito-Lee, Joy

AU - Nickerson, Deborah A.

AU - Peters, Heidi L.

AU - Race, Valerie

AU - Regal, Luc

AU - Rush, Jeffrey S.

AU - Rutledge, S. Lane

AU - Shendure, Jay

AU - Souche, Erika

AU - Sparks, Susan E.

AU - Trapane, Pamela

AU - Sanchez-Valle, Amarilis

AU - Vilain, Eric

AU - Vollo, Arve

AU - Waechter, Charles J.

AU - Wang, Raymond Y.

AU - Wolfe, Lynne A.

AU - Wong, Derek A.

AU - Wood, Tim

AU - Yang, Amy C.

AU - Washington, Univ

AU - Matthijs, Gert

AU - Freeze, Hudson H.

PY - 2016/7

Y1 - 2016/7

KW - CDG

KW - asparagine-linked glycosylation protein 1

KW - carbohydrate-deficient transferrin

KW - xeno-tetrasaccharide

U2 - 10.1002/humu.22983

DO - 10.1002/humu.22983

M3 - Article

SN - 1059-7794

VL - 37

SP - 653

EP - 660

JO - Human Mutation

JF - Human Mutation

IS - 7

ER -