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Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.
Published in:
Pediatrics International, 2016, v. 58, n. 8, p. 785, doi. 10.1111/ped.12988
By:
- Harshman, Lyndsay A;
- Ng, Bobby G;
- Freeze, Hudson H;
- Trapane, Pamela;
- Dolezal, Anna;
- Brophy, Patrick D;
- Brumbaugh, Jane E
Publication type:
Article
Cover Image, Volume 179A, Number 3, March 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. i, doi. 10.1002/ajmg.a.61077
By:
- Haanpää, Maria K.;
- Ng, Bobby G.;
- Gallant, Natalie M.;
- Singh, Kathryn E.;
- Brown, Candida;
- Kimonis, Virginia;
- Freeze, Hudson H.;
- Muller, Eric A.
Publication type:
Article
ALG11‐CDG syndrome: Expanding the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 498, doi. 10.1002/ajmg.a.61046
By:
- Haanpää, Maria K.;
- Ng, Bobby G.;
- Gallant, Natalie M.;
- Singh, Kathryn E.;
- Brown, Candida;
- Kimonis, Virginia;
- Freeze, Hudson H.;
- Muller, Eric A.
Publication type:
Article
Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2906, doi. 10.1002/ajmg.a.38412
By:
- Ng, Bobby G.;
- Asteggiano, Carla G.;
- Kircher, Martin;
- Buckingham, Kati J.;
- Raymond, Kimiyo;
- Nickerson, Deborah A.;
- Shendure, Jay;
- Bamshad, Michael J.;
- Ensslen, Matthias;
- Freeze, Hudson H.
Publication type:
Article
SRD5A3-CDG: Expanding the Phenotype of a Congenital Disorder of Glycosylation with Emphasis on Adult Onset Features.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3165, doi. 10.1002/ajmg.a.37875
By:
- Wheeler, Patricia G.;
- Ng, Bobby G.;
- Sanford, Laura;
- Sutton, V. Reid;
- Bartholomew, Dennis W.;
- Pastore, Matthew T.;
- Bamshad, Michael J.;
- Kircher, Martin;
- Buckingham, Kati J.;
- Nickerson, Deborah A.;
- Shendure, Jay;
- Freeze, Hudson H.
Publication type:
Article
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation.
Published in:
2018
By:
- Vajro, Pietro;
- Zielinska, Katarzyna;
- Ng, Bobby G.;
- Maccarana, Marco;
- Bengtson, Per;
- Poeta, Marco;
- Mandato, Claudia;
- D'Acunto, Elisa;
- Freeze, Hudson H.;
- Eklund, Erik A.
Publication type:
journal article
The Swedish COG6‐CDG experience and a comprehensive literature review.
Published in:
Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 79, doi. 10.1002/jmd2.12338
By:
- Xia, Zhi‐Jie;
- Ng, Bobby G.;
- Jennions, Elizabeth;
- Blomqvist, Maria;
- Sandqvist Wiklund, Anneli;
- Hedberg‐Oldfors, Carola;
- Gonzalez, Carlos Rodriguez;
- Freeze, Hudson H.;
- Ygberg, Sofia;
- Eklund, Erik A.
Publication type:
Article
MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 20, doi. 10.1002/jmd2.12159
By:
- Abdel Ghaffar, Tawhida Y.;
- Ng, Bobby G.;
- Elsayed, Solaf M.;
- El Naghi, Suzan;
- Helmy, Sarah;
- Mohammed, Nermine;
- El Hennawy, Ahmed;
- Freeze, Hudson H.
Publication type:
Article
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 11, p. 3210, doi. 10.1093/brain/awq261
By:
- Morava, Eva;
- Wevers, Ron A.;
- Cantagrel, Vincent;
- Hoefsloot, Lies H.;
- Al-Gazali, Lihadh;
- Schoots, Jeroen;
- Rooij, Arno van;
- Huijben, Karin;
- Ravenswaaij-Arts, Connie M. A. van;
- Jongmans, Marjolein C. J.;
- Sykut-Cegielska, Jolanta;
- Hoffmann, Georg F.;
- Bluemel, Peter;
- Adamowicz, Maciej;
- Reeuwijk, Jeroen van;
- Ng, Bobby G.;
- Bergman, Jorieke E. H.;
- Bokhoven, Hans van;
- Körner, Christian;
- Babovic-Vuksanovic, Dusica
Publication type:
Article
Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.
Published in:
FASEB Journal, 2014, v. 28, n. 4, p. 1854, doi. 10.1096/fj.13-245514
By:
- Sharma, Vandana;
- Nayak, Jonamani;
- DeRossi, Charles;
- Charbono, Adriana;
- Ichikawa, Mie;
- Ng, Bobby G.;
- Grajales-Esquivel, Erika;
- Srivastava, Anand;
- Ling Wang;
- Ping He;
- Scott, David A.;
- Russell, Joseph;
- Emily Contreras, Emily Contreras;
- Guess, Cherise M.;
- Krajewski, Stan;
- Rio-Tsonis, Katia Del;
- Freeze, Hudson H.
Publication type:
Article
A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy.
Published in:
FASEB Journal, 2012, v. 26, n. 10, p. 4210, doi. 10.1096/fj.12-211656
By:
- Losfeld, Marie-Estelle;
- Soncin, Francesca;
- Ng, Bobby G.;
- Singec, Ilyas;
- Freeze, Hudson H.
Publication type:
Article
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine- Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
Published in:
Clinical Chemistry, 2016, v. 62, n. 1, p. 208, doi. 10.1373/clinchem.2015.243279
By:
- Wenyue Zhang;
- James, Philip M.;
- Ng, Bobby G.;
- Xueli Li;
- Baoyun Xia;
- Jiang Rong;
- Asif, Ghazia;
- Raymond, Kimiyo;
- Jones, Melanie A.;
- Hegde, Madhuri;
- Tongzhong Ju;
- Cummings, Richard D.;
- Clarkson, Katie;
- Wood, Tim;
- Boerkoel, Cornelius F.;
- Freeze, Hudson H.;
- Miao He
Publication type:
Article
Dissecting Functions of the Conserved Oligomeric Golgi Tethering Complex Using a Cell-Free Assay.
Published in:
Traffic, 2014, v. 15, n. 1, p. 12, doi. 10.1111/tra.12128
By:
- Cottam, Nathanael P.;
- Wilson, Katherine M.;
- Ng, Bobby G.;
- Körner, Christian;
- Freeze, Hudson H.;
- Ungar, Daniel
Publication type:
Article
Dissecting the molecular organization of the translocon-associated protein complex.
Published in:
Nature Communications, 2017, v. 8, n. 2, p. 14516, doi. 10.1038/ncomms14516
By:
- Pfeffer, Stefan;
- Dudek, Johanna;
- Schaffer, Miroslava;
- Ng, Bobby G.;
- Albert, Sahradha;
- Plitzko, Jürgen M.;
- Baumeister, Wolfgang;
- Zimmermann, Richard;
- Freeze, Hudson H.;
- Engel, Benjamin D.;
- Förster, Friedrich
Publication type:
Article
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
Published in:
Clinical Genetics, 2022, v. 102, n. 6, p. 530, doi. 10.1111/cge.14208
By:
- Nagy, Sara;
- Lau, Tracy;
- Alavi, Shahryar;
- Karimiani, Ehsan Ghayoor;
- Vallian, Jalal;
- Ng, Bobby G.;
- Noroozi Asl, Samaneh;
- Akhondian, Javad;
- Bahreini, Amir;
- Yaghini, Omid;
- Uapinyoying, Prech;
- Bonnemann, Carsten;
- Freeze, Hudson H.;
- Dissanayake, Vajira H. W.;
- Sirisena, Nirmala D.;
- Schmidts, Miriam;
- Houlden, Henry;
- Moreno‐De‐Luca, Andres;
- Maroofian, Reza
Publication type:
Article
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1195, doi. 10.1002/jimd.12679
By:
- Duan, Ruizhi;
- Marafi, Dana;
- Xia, Zhi‐Jie;
- Ng, Bobby G.;
- Maroofian, Reza;
- Sumya, Farhana Taher;
- Saad, Ahmed K.;
- Du, Haowei;
- Fatih, Jawid M.;
- Hunter, Jill V.;
- Elbendary, Hasnaa M.;
- Baig, Shahid M.;
- Abdullah, Uzma;
- Ali, Zafar;
- Efthymiou, Stephanie;
- Murphy, David;
- Mitani, Tadahiro;
- Withers, Marjorie A.;
- Jhangiani, Shalini N.;
- Coban‐Akdemir, Zeynep
Publication type:
Article
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1170, doi. 10.1002/jimd.12667
By:
- del Caño‐Ochoa, Francisco;
- Ng, Bobby G.;
- Rubio‐del‐Campo, Antonio;
- Mahajan, Sonal;
- Wilson, Matthew P.;
- Vilar, Marçal;
- Rymen, Daisy;
- Sánchez‐Pintos, Paula;
- Kenny, Joanna;
- Ley Martos, Myriam;
- Campos, Teresa;
- Wortmann, Saskia B.;
- Freeze, Hudson H.;
- Ramón‐Maiques, Santiago
Publication type:
Article
Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 326, doi. 10.1002/jimd.12595
By:
- Dang Do, An N.;
- Chang, Irene J.;
- Jiang, Xutian;
- Wolfe, Lynne A.;
- Ng, Bobby G.;
- Lam, Christina;
- Schnur, Rhonda E.;
- Allis, Katrina;
- Hansikova, Hana;
- Ondruskova, Nina;
- O'Connor, Shawn D.;
- Sanchez‐Valle, Amarilis;
- Vollo, Arve;
- Wang, Raymond Y.;
- Wolfenson, Zoe;
- Perreault, John;
- Ory, Daniel S.;
- Freeze, Hudson H.;
- Merritt, J. Lawrence;
- Porter, Forbes D.
Publication type:
Article
Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 300, doi. 10.1002/jimd.12589
By:
- Alharbi, Hana;
- Daniel, Earnest James Paul;
- Thies, Jenny;
- Chang, Irene;
- Goldner, Dana L.;
- Ng, Bobby G.;
- Witters, Peter;
- Aqul, Amal;
- Velez‐Bartolomei, Frances;
- Enns, Gregory M.;
- Hsu, Evelyn;
- Kichula, Elizabeth;
- Lee, Esther;
- Lourenco, Charles;
- Poskanzer, Sheri A.;
- Rasmussen, Sara;
- Saarela, Katelyn;
- Wang, YunZu M.;
- Raymond, Kimiyo M.;
- Schultz, Matthew J.
Publication type:
Article
DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 92, doi. 10.1002/jimd.12565
By:
- Elsharkawi, Ibrahim;
- Wongkittichote, Parith;
- Daniel, Earnest James Paul;
- Starosta, Rodrigo Tzovenos;
- Ueda, Keisuke;
- Ng, Bobby G.;
- Freeze, Hudson H.;
- He, Miao;
- Shinawi, Marwan
Publication type:
Article
ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 969, doi. 10.1002/jimd.12527
By:
- Albokhari, Daniah;
- Ng, Bobby G.;
- Guberinic, Alis;
- Daniel, Earnest James Paul;
- Engelhardt, Nicole M.;
- Barone, Rita;
- Fiumara, Agata;
- Garavelli, Livia;
- Trimarchi, Gabriele;
- Wolfe, Lynne;
- Raymond, Kimiyo M.;
- Morava, Eva;
- He, Miao;
- Freeze, Hudson H.;
- Lam, Christina;
- Edmondson, Andrew C.
Publication type:
Article
ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 1001, doi. 10.1002/jimd.12378
By:
- Alsharhan, Hind;
- He, Miao;
- Edmondson, Andrew C.;
- Daniel, Earnest J. P.;
- Chen, Jie;
- Donald, Tyhiesia;
- Bakhtiari, Somayeh;
- Amor, David J.;
- Jones, Elizabeth A.;
- Vassallo, Grace;
- Vincent, Marie;
- Cogné, Benjamin;
- Deb, Wallid;
- Werners, Arend H.;
- Jin, Sheng C.;
- Bilguvar, Kaya;
- Christodoulou, John;
- Webster, Richard I.;
- Yearwood, Katherine R.;
- Ng, Bobby G.
Publication type:
Article
Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 987, doi. 10.1002/jimd.12367
By:
- Alsharhan, Hind;
- Ng, Bobby G.;
- Daniel, Earnest James Paul;
- Friedman, Jennifer;
- Pivnick, Eniko K.;
- Al‐Hashem, Amal;
- Faqeih, Eissa Ali;
- Liu, Pengfei;
- Engelhardt, Nicole M.;
- Keller, Kierstin N.;
- Chen, Jie;
- Mazzeo, Pamela A.;
- Rosenfeld, Jill A.;
- Bamshad, Michael J.;
- Nickerson, Deborah A.;
- Raymond, Kimiyo M.;
- Freeze, Hudson H.;
- He, Miao;
- Edmondson, Andrew C.;
- Lam, Christina
Publication type:
Article
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1333, doi. 10.1002/jimd.12290
By:
- Ng, Bobby G.;
- Eklund, Erik A.;
- Shiryaev, Sergey A.;
- Dong, Yin Y.;
- Abbott, Mary‐Alice;
- Asteggiano, Carla;
- Bamshad, Michael J.;
- Barr, Eileen;
- Bernstein, Jonathan A.;
- Chelakkadan, Shabeed;
- Christodoulou, John;
- Chung, Wendy K.;
- Ciliberto, Michael A.;
- Cousin, Janice;
- Gardiner, Fiona;
- Ghosh, Suman;
- Graf, William D.;
- Grunewald, Stephanie;
- Hammond, Katherine;
- Hauser, Natalie S.
Publication type:
Article
Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1037, doi. 10.1002/jimd.12249
By:
- Tambe, Mitali A.;
- Ng, Bobby G.;
- Shimada, Shino;
- Wolfe, Lynne A.;
- Adams, David R.;
- Gahl, William A.;
- Bamshad, Michael J.;
- Nickerson, Deborah A.;
- Malicdan, May C. V.;
- Freeze, Hudson H.
Publication type:
Article
Expanding the molecular and clinical phenotypes of FUT8‐CDG.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 871, doi. 10.1002/jimd.12221
By:
- Ng, Bobby G.;
- Dastsooz, Hassan;
- Silawi, Mohammad;
- Habibzadeh, Parham;
- Jahan, Shima B.;
- Fard, Mohammad A. F.;
- Halliday, Benjamin J.;
- Raymond, Kimiyo;
- Ruzhnikov, Maura R. Z.;
- Tabatabaei, Zahra;
- Taghipour‐Sheshdeh, Afsaneh;
- Brimble, Elise;
- Robertson, Stephen P.;
- Faghihi, Mohammad A.;
- Freeze, Hudson H.
Publication type:
Article
Mutations in the translocon‐associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 993, doi. 10.1002/jimd.12091
By:
- Ng, Bobby G.;
- Lourenço, Charles M.;
- Losfeld, Marie‐Estelle;
- Buckingham, Kati J.;
- Kircher, Martin;
- Nickerson, Deborah A.;
- Shendure, Jay;
- Bamshad, Michael J.;
- Freeze, Hudson H.
Publication type:
Article
Factor VIII and vWF deficiency in STT3A‐CDG.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 325, doi. 10.1002/jimd.12021
By:
- Chang, Irene J.;
- Byers, Heather M.;
- Ng, Bobby G.;
- Merritt, John Lawrence;
- Gilmore, Reid;
- Shrimal, Shiteshu;
- Wei, Wei;
- Zhang, Yuan;
- Blair, Amanda B.;
- Freeze, Hudson H.;
- Zhang, Bin;
- Lam, Christina
Publication type:
Article
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 15, p. 2571, doi. 10.1093/hmg/ddac055
By:
- Wilson, Matthew P;
- Durin, Zoé;
- Unal, Özlem;
- Ng, Bobby G;
- Marrecau, Thomas;
- Keldermans, Liesbeth;
- Souche, Erika;
- Rymen, Daisy;
- Gündüz, Mehmet;
- Köse, Gülşen;
- Sturiale, Luisa;
- Garozzo, Domenico;
- Freeze, Hudson H;
- Jaeken, Jaak;
- Foulquier, François;
- Matthijs, Gert
Publication type:
Article
Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 11, p. 3050, doi. 10.1093/hmg/ddv057
By:
- Ng, Bobby G.;
- Wolfe, Lynne A.;
- Ichikawa, Mie;
- Markello, Thomas;
- Miao He;
- Tifft, Cynthia J.;
- Gahl, William A.;
- Freeze, Hudson H.
Publication type:
Article
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 6, p. 1602
By:
- Losfeld, Marie Estelle;
- Ng, Bobby G.;
- Kircher, Martin;
- Buckingham, Kati J.;
- Turner, Emily H.;
- Eroshkin, Alexey;
- Smith, Joshua D.;
- Shendure, Jay;
- Nickerson, Deborah A.;
- Bamshad, Michael J.;
- Freeze, Hudson H.
Publication type:
Article
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 22, p. 4638, doi. 10.1093/hmg/ddt312
By:
- Shrimal, Shiteshu;
- Ng, Bobby G.;
- Losfeld, Marie-Estelle;
- Gilmore, Reid;
- Freeze, Hudson H.
Publication type:
Article
Identification of a synovial fibroblast-specific protein transduction domain for delivery of apoptotic agents to hyperplastic synovium
Published in:
Molecular Therapy, 2003, v. 8, n. 2, p. 295, doi. 10.1016/S1525-0016(03)00181-3
By:
- Mi, Zhibao;
- Lu, Xiaoli;
- Mai, Jeffrey C.;
- Ng, Bobby G.;
- Wang, Guiqiang;
- Lechman, Eric R.;
- Watkins, Simon C.;
- Rabinowich, Hannah;
- Robbins, Paul D.
Publication type:
Article
SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Published in:
Human Mutation, 2019, v. 40, n. 7, p. 908, doi. 10.1002/humu.23731
By:
- Ng, Bobby G.;
- Sosicka, Paulina;
- Agadi, Satish;
- Almannai, Mohammed;
- Bacino, Carlos A.;
- Barone, Rita;
- Botto, Lorenzo D.;
- Burton, Jennifer E.;
- Carlston, Colleen;
- Chung, Brian Hon‐Yin;
- Cohen, Julie S.;
- Coman, David;
- Dipple, Katrina M.;
- Dorrani, Naghmeh;
- Dobyns, William B.;
- Elias, Abdallah F.;
- Epstein, Leon;
- Gahl, William A.;
- Garozzo, Domenico;
- Hammer, Trine Bjørg
Publication type:
Article
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Published in:
Human Mutation, 2016, v. 37, n. 7, p. 653, doi. 10.1002/humu.22983
By:
- Ng, Bobby G.;
- Shiryaev, Sergey A.;
- Rymen, Daisy;
- Eklund, Erik A.;
- Raymond, Kimiyo;
- Kircher, Martin;
- Abdenur, Jose E.;
- Alehan, Fusun;
- Midro, Alina T.;
- Bamshad, Michael J.;
- Barone, Rita;
- Berry, Gerard T.;
- Brumbaugh, Jane E.;
- Buckingham, Kati J.;
- Clarkson, Katie;
- Cole, F. Sessions;
- O'Connor, Shawn;
- Cooper, Gregory M.;
- Coster, Rudy;
- Demmer, Laurie A.
Publication type:
Article
Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
Published in:
Human Mutation, 2015, v. 36, n. 11, p. 1048, doi. 10.1002/humu.22856
By:
- Ng, Bobby G.;
- Raymond, Kimiyo;
- Kircher, Martin;
- Buckingham, Kati J.;
- Wood, Tim;
- Shendure, Jay;
- Nickerson, Deborah A.;
- Bamshad, Michael J.;
- Wong, Jonathan T.S.;
- Monteiro, Fabiola Paoli;
- Graham, Brett H.;
- Jackson, Sheryl;
- Sparkes, Rebecca;
- Scheuerle, Angela E.;
- Cathey, Sara;
- Kok, Fernando;
- Gibson, James B.;
- Freeze, Hudson H.
Publication type:
Article
RFT1 deficiency in three novel CDG patients.
Published in:
Human Mutation, 2009, v. 30, n. 10, p. 1428, doi. 10.1002/humu.21085
By:
- Vleugels, Wendy;
- Haeuptle, Micha A.;
- Ng, Bobby G.;
- Michalski, Jean-Claude;
- Battini, Roberta;
- Dionisi-Vici, Carlo;
- Ludman, Mark D.;
- Jaeken, Jaak;
- Foulquier, François;
- Freeze, Hudson H.;
- Matthijs, Gert;
- Hennet, Thierry
Publication type:
Article
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.
Published in:
Glycobiology, 2015, v. 25, n. 8, p. 836, doi. 10.1093/glycob/cwv024
By:
- Ping He;
- Grotzke, Jeff E.;
- Ng, Bobby G.;
- Gunel, Murat;
- Jafar-Nejad, Hamed;
- Cresswell, Peter;
- Enns, Gregory M.;
- Freeze, Hudson H.
Publication type:
Article
COG8 deficiency causes new congenital disorder of glycosylation type IIh.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 7, p. 731, doi. 10.1093/hmg/ddm028
By:
- Kranz, Christian;
- Ng, Bobby G.;
- Sun, Liangwu;
- Sharma, Vandana;
- Eklund, Erik A.;
- Miura, Yoshiaki;
- Ungar, Daniel;
- Lupashin, Vladimir;
- Winkel, R. Dennis;
- Cipollo, John F.;
- Costello, Catherine E.;
- Loh, Eva;
- Hong, Wanjin;
- Freeze, Hudson H.
Publication type:
Article

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