Works matching AU Hudson H. Freeze

Results: 88

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

Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic(Communicated by Robert J. Desnick) Online Citation: Human Mutation, Mutation in Brief #666 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/666.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 420, doi. 10.1002/humu.9195

By:

Vibeke Westphal;
Ming Xiao;
Pui-Yan Kwok;
Hudson H. Freeze

Publication type:

Article

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij (Communicated by Elizabeth Neufeld).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 144, doi. 10.1002/humu.10239

By:

Xiaohua Wu;
Jeffrey S. Rush;
Denise Karaoglu;
Donna Krasnewich;
Mark S. Lubinsky;
Charles J. Waechter;
Reid Gilmore;
Hudson H. Freeze

Publication type:

Article

Deficiency of UDP?GlcNAc:Dolichol Phosphate N?Acetylglucosamine?1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type IjCommunicated by Elizabeth Neufeld.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 144, doi. 10.1002/humu.10239

By:

Xiaohua Wu;
Jeffrey S. Rush;
Denise Karaoglu;
Donna Krasnewich;
Mark S. Lubinsky;
Charles J. Waechter;
Reid Gilmore;
Hudson H. Freeze

Publication type:

Article

Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation.

Published in:

Molecular Brain, 2013, v. 6, n. 1, p. 2, doi. 10.1186/1756-6606-6-52

By:

Liangwu Sun;
Yingjun Zhao;
Kun Zhou;
Freeze, Hudson H.;
Yun-wu Zhang;
Huaxi Xu

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

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.

Published in:

Nature Medicine, 2004, v. 10, n. 5, p. 518, doi. 10.1038/nm1041

By:

Xiaohua Wu;
Steet, Richard A.;
Bohorov, Ognian;
Bakker, Jaap;
Newell, John;
Krieger, Monty;
Spaapen, Leo;
Kornfeld, Stuart;
Freeze, Hudson H.

Publication type:

Article

Congenital Disorder of Glycosylation Id Presenting with Hyperinsulinemic Hypoglycemia and Islet Cell Hyperplasia.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 7, p. 4371, doi. 10.1210/jc.2005-0250

By:

Liangwu Sun;
Eklund, Erik A.;
Chung, Wendy K.;
Chao Wang;
Cohen, Jason;
Freeze, Hudson H.

Publication type:

Article

Erratum: Carboxylated N-glycans on RAGE promote S100A12 binding and signaling, in Journal of Cellular Biochemistry, by Srikrishna et al.

Published in:

Journal of Cellular Biochemistry, 2010, v. 111, n. 1, p. 248, doi. 10.1002/jcb.22746

By:

Srikrishna, Geetha;
Nayak, Jonamani;
Weigle, Bernd;
Temme, Achim;
Foell, Dirk;
Hazelwood, Larnele;
Olsson, Anna;
Volkmann, Niels;
Hanein, Dorit;
Freeze, Hudson H.

Publication type:

Article

Carboxylated N-glycans on RAGE promote S100A12 binding and signaling.

Published in:

Journal of Cellular Biochemistry, 2010, v. 110, n. 3, p. 645, doi. 10.1002/jcb.22575

By:

Srikrishna, Geetha;
Nayak, Jonamani;
Weigle, Bernd;
Temme, Achim;
Foell, Dirk;
Hazelwood, Larnele;
Olsson, Anna;
Volkmann, Niels;
Hanein, Dorit;
Freeze, Hudson H.

Publication type:

Article

The transcription factor ATF2 promotes melanoma metastasis by suppressing protein fucosylation.

Published in:

Science Signaling, 2015, v. 8, n. 406, p. 1, doi. 10.1126/scisignal.aac6479

By:

Lau, Eric;
Yongmei Feng;
Claps, Giuseppina;
Fukuda, Michiko N.;
Perlina, Ally;
Donn, Dylan;
Jilaveanu, Lucia;
Kluger, Harriet;
Freeze, Hudson H.;
Ronai, Ze'ev A.

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

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

A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 11, p. 2182, doi. 10.1093/hmg/ddw085

By:

Chan, Barden;
Clasquin, Michelle;
Smolen, Gromoslaw A.;
Histen, Gavin;
Powe, Josh;
Yue Chen;
Zhizhong Lin;
Chenming Lu;
Yan Liu;
Yong Cang;
Zhonghua Yan;
Yuanfeng Xia;
Thompson, Ryan;
Singleton, Chris;
Dorsch, Marion;
Silverman, Lee;
Su, Shin-San Michael;
Freeze, Hudson H.;
Shengfang Jin

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

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

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

Heparan sulfate and syndecan-1 are essential in maintaining murine and human intestinal epithelial barrier function.

Published in:

2008

By:

Bode, Lars;
Salvestrini, Camilla;
Pyong Woo Park;
Jin-Ping Li;
Esko, Jeffrey D.;
Yamaguchi, Yu;
Murch, Simon;
Freeze, Hudson H.;
Park, Pyong Woo;
Li, Jin-Ping

Publication type:

journal article

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

Proteomics reveals signal peptide features determining the client specificity in human TRAP-dependent ER protein import.

Published in:

Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06188-z

By:

Nguyen, Duy;
Stutz, Regine;
Schorr, Stefan;
Lang, Sven;
Pfeffer, Stefan;
Freeze, Hudson H.;
Förster, Friedrich;
Helms, Volkhard;
Dudek, Johanna;
Zimmermann, Richard

Publication type:

Article

Agm1/Pgm3-Mediated Sugar Nucleotide Synthesis Is Essential for Hematopoiesis and Development.

Published in:

Molecular & Cellular Biology, 2007, v. 27, n. 16, p. 20, doi. 10.1128/MCB.00802-07

By:

Greig, Kylie T.;
Antonchuk, Jennifer;
Metcalf, Donald;
Morgan, Phillip O.;
Krebs, Danielle L.;
Jian-Guo Zhang;
Hacking, Douglas F.;
Bode, Lars;
Robb, Lorraine;
Kranz, Christian;
De Graaf, Carolyn;
Bahlo, Melanie;
Nicola, Nicos A.;
Nutt, Stephen L.;
Freeze, Hudson H.;
Alexander, Warren S.;
Hilton, Douglas J.;
Kile, Benjamin T.

Publication type:

Article

Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 766, doi. 10.1002/jimd.12739

By:

Daniel, Earnest J. P.;
Edmondson, Andrew C.;
Argon, Yair;
Alsharhan, Hind;
Lam, Christina;
Freeze, Hudson H.;
He, Miao

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

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

CDG or not CDG.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 383, doi. 10.1002/jimd.12498

By:

Freeze, Hudson H.;
Jaeken, Jaak;
Matthijs, Gert

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

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

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

Genetic defects in the human glycome.

Published in:

2006

By:

Freeze, Hudson H.

Publication type:

Correction Notice

Genetic defects in the human glycome.

Published in:

Nature Reviews Genetics, 2006, v. 7, n. 7, p. 537, doi. 10.1038/nrg1894

By:

Freeze, Hudson H.

Publication type:

Article

Communication: Synthesis of a Library of β-GlcNAc Glycosides to Screen for Efficient in Vivo Glycosyltransferase Acceptors.

Published in:

Journal of Carbohydrate Chemistry, 1999, v. 18, n. 4, p. 471, doi. 10.1080/07328309908544011

By:

Ding, Yili;
Miura, Yoshiaki;
Etchison, James R.;
Freeze, Hudson H.;
Hindsgaul, Ole

Publication type:

Article

Synthesis of β-GlcA-(1→3)-β-Gal and α-GalNAc-(1→4)-β-GleA-(1→3)-β-Gal as Biotinylated 2-Aminoethyl Glycoside and the Streptavidin Complex Formation.

Published in:

Journal of Carbohydrate Chemistry, 1999, v. 18, n. 1, p. 1, doi. 10.1080/07328309908543974

By:

Tamura, Jun-ichi;
Miura, Yoshiaki;
Freeze, Hudson H.

Publication type:

Article

Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.

Published in:

2021

By:

González-Domínguez, Carlos Alberto;
Fiesco-Roa, Moisés O.;
Gómez-Carmona, Samuel;
Kleinert-Altamirano, Anke Paula Ingrid;
He, Miao;
Daniel, Earnest James Paul;
Raymond, Kimiyo M.;
Abreu-González, Melania;
Manrique-Hernández, Sandra;
González-Jaimes, Ana;
Salinas-Marín, Roberta;
Molina-Garay, Carolina;
Carrillo-Sánchez, Karol;
Flores-Lagunes, Luis Leonardo;
Jiménez-Olivares, Marco;
Muñoz-Rivas, Anallely;
Cruz-Muñoz, Mario E.;
Ruíz-García, Matilde;
Freeze, Hudson H.;
Mora-Montes, Héctor M.

Publication type:

Correction Notice

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.744884

By:

González-Domínguez, Carlos Alberto;
Fiesco-Roa, Moisés O.;
Gómez-Carmona, Samuel;
Kleinert-Altamirano, Anke Paula Ingrid;
He, Miao;
Daniel, Earnest James Paul;
Raymond, Kimiyo M.;
Abreu-González, Melania;
Manrique-Hernández, Sandra;
González-Jaimes, Ana;
Salinas-Marín, Roberta;
Molina-Garay, Carolina;
Carrillo-Sánchez, Karol;
Flores-Lagunes, Luis Leonardo;
Jiménez-Olivares, Marco;
Muñoz-Rivas, Anallely;
Cruz-Muñoz, Mario E.;
Ruíz-García, Matilde;
Freeze, Hudson H.;
Mora-Montes, Héctor M.

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

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patientswith congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutasedeficiency.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 5, p. 599, doi. 10.1093/hmg/11.5.599

By:

Westphal, Vibeke;
Kjaergaard, Susanne;
Schollen, Els;
Martens, Kevin;
Grunewald, Stephanie;
Schwartz, Marianne;
Matthijs, Gert;
Freeze, Hudson H.

Publication type:

Article

Evolutionary conservation of human ketodeoxynonulosonic acid production is independent of sialoglycan biosynthesis.

Published in:

2021

By:

Kunio Kawanishi;
Saha, Sudeshna;
Diaz, Sandra;
Vaill, Michael;
Sasmal, Aniruddha;
Siddiqui, Shoib S.;
Choudhury, Biswa P.;
Sharma, Kumar;
Xi Chen;
Schoenhofen, Ian C.;
Chihiro Sato;
Ken Kitajima;
Freeze, Hudson H.;
Münster-Kühnel, Anja;
Varki, Ajit;
Kawanishi, Kunio;
Choudhury, Biswa;
Chen, Xi;
Sato, Chihiro;
Kitajima, Ken

Publication type:

journal article