Works matching DE "IDURONIDASE"

Results: 30

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Published in:

2017

By:

Li Ou;
Przybilla, Michael J.;
Whitley, Chester B.;
Ou, Li

Publication type:

journal article

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.

Published in:

2015

By:

Al-Sannaa, Nouriya A.;
Bay, Luisa;
Barbouth, Deborah S.;
Benhayoun, Youssef;
Goizet, Cyril;
Guelbert, Norberto;
Jones, Simon A.;
Kyosen, Sandra Obikawa;
Martins, Ana Maria;
Phornphutkul, Chanika;
Reig, Celia;
Pleat, Rebecca;
Fallet, Shari;
Holder, Iva Ivanovska;
Ivanovska Holder, Iva

Publication type:

journal article

An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-99

By:

Kingma, Sandra D. K.;
Langereis, Eveline J.;
De Klerk, Clasine M.;
Zoetekouw, Lida;
Wagemans, Tom;
IJlst, Lodewijk;
Wanders, Ronald J. A.;
Wijburg, Frits A.;
van Vlies, Naomi

Publication type:

Article

N-glycan structures and downstream mannose-phosphorylation of plant recombinant human alpha- l-iduronidase: toward development of enzyme replacement therapy for mucopolysaccharidosis I.

Published in:

Plant Molecular Biology, 2017, v. 95, n. 6, p. 593, doi. 10.1007/s11103-017-0673-x

By:

Pierce, Owen;
McNair, Grant;
He, Xu;
Kajiura, Hiroyuki;
Fujiyama, Kazuhito;
Kermode, Allison

Publication type:

Article

Influence of an ER-retention signal on the N-glycosylation of recombinant human α- l-iduronidase generated in seeds of Arabidopsis.

Published in:

Plant Molecular Biology, 2012, v. 79, n. 1-2, p. 157, doi. 10.1007/s11103-012-9902-5

By:

He, Xu;
Haselhorst, Thomas;
Itzstein, Mark;
Kolarich, Daniel;
Packer, Nicolle;
Kermode, Allison

Publication type:

Article

Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.

Published in:

2019

By:

Semyachkina, A. N.;
Voskoboeva, E. Y.;
Zakharova, E. Y.;
Nikolaeva, E. A.;
Kanivets, I. V.;
Kolotii, A. D.;
Baydakova, G. V.;
Kharabadze, M. N.;
Kuramagomedova, R. G.;
Melnikova, N. V.

Publication type:

Case Study

Synthesis of a fluorogenic substrate for α-L-iduronidase.

Published in:

ARKIVOC: Online Journal of Organic Chemistry, 2013, p. 13

By:

Fu-Chieh Lu;
Lico, Larry S.;
Shang-Cheng Hung

Publication type:

Article

Treatment of MPS I mice with microencapsulated cells overexpressing IDUA: effect of the prednisolone administration.

Published in:

Journal of Microencapsulation, 2013, v. 30, n. 4, p. 383, doi. 10.3109/02652048.2012.746745

By:

Lagranha, Valeska Lizzi;
de Carvalho, Talita Giacomet;
Giugliani, Roberto;
Matte, Ursula

Publication type:

Article

Hurler syndrome: orofacial, dental, and skeletal findings of a case.

Published in:

Skeletal Radiology, 2015, v. 44, n. 4, p. 579, doi. 10.1007/s00256-014-1982-7

By:

Thakur, Arpita;
Naikmasur, Venkatesh;
Sattur, Atul

Publication type:

Article

Laronidase-Functionalized Multiple-Wall Lipid-Core Nanocapsules: Promising Formulation for a More Effective Treatment of Mucopolysaccharidosis Type I.

Published in:

Pharmaceutical Research, 2015, v. 32, n. 3, p. 941, doi. 10.1007/s11095-014-1508-y

By:

Mayer, Fabiana;
Adorne, Márcia;
Bender, Eduardo;
Carvalho, Talita;
Dilda, Anna;
Beck, Ruy;
Guterres, Sílvia;
Giugliani, Roberto;
Matte, Ursula;
Pohlmann, Adriana

Publication type:

Article

Clinical manifestation of Hurler syndrome in a 7 year old child.

Published in:

Contemporary Clinical Dentistry, 2012, v. 3, n. 1, p. 86, doi. 10.4103/0976-237X.94554

By:

Sharma, S.;
Sabharwal, J. R.;
Datta, P.;
Sood, S.

Publication type:

Article

Worldwide distribution of common IDUA pathogenic variants.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 95, doi. 10.1111/cge.13224

By:

Poletto, E.;
Pasqualim, G.;
Giugliani, R.;
Matte, U.;
Baldo, G.

Publication type:

Article

Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis.

Published in:

Clinical Genetics, 2012, v. 81, n. 5, p. 443, doi. 10.1111/j.1399-0004.2011.01680.x

By:

Wang, X;
Zhang, W;
Shi, H;
Qiu, Z;
Meng, Y;
Yao, F;
Wei, M

Publication type:

Article

Mucopolisacaridosis I.

Published in:

Revista Medica del IMSS, 2012, v. 50, n. 2, p. 197

By:

Sánchez-Sánchez, Luz María;
Ángel-Cruz, Edith del;
Domínguez-Sansores, Luis Alfredo

Publication type:

Article

New Irreversible α‐l‐Iduronidase Inhibitors and Activity‐Based Probes.

Published in:

Chemistry - A European Journal, 2018, v. 24, n. 71, p. 19081, doi. 10.1002/chem.201804662

By:

Artola, Marta;
Kuo, Chi‐Lin;
McMahon, Stephen A.;
Oehler, Verena;
Hansen, Thomas;
van der Lienden, Martijn;
He, Xu;
van den Elst, Hans;
Florea, Bogdan I.;
Kermode, Allison R.;
van der Marel, Gijsbert A.;
Gloster, Tracey M.;
Codée, Jeroen D. C.;
Overkleeft, Herman S.;
Aerts, Johannes M. F. G.

Publication type:

Article

Recombinant Encapsulated Cells Overexpressing Alpha-L-Iduronidase Correct Enzyme Deficiency in Human Mucopolysaccharidosis Type I Cells.

Published in:

Cells Tissues Organs, 2012, v. 195, n. 4, p. 323, doi. 10.1159/000327532

By:

Baldo, Guilherme;
Quoos Mayer, Fabiana;
Burin, Maira;
Carrillo-Farga, Joaquín;
Matte, Ursula;
Giugliani, Roberto

Publication type:

Article

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I.

Published in:

PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0150850

By:

Khalid, Omar;
Vera, Moin U.;
Gordts, Philip L.;
Ellinwood, N. Matthew;
Schwartz, Philip H.;
Dickson, Patricia I.;
Esko, Jeffrey D.;
Wang, Raymond Y.

Publication type:

Article

Effects of Enzyme Replacement Therapy Started Late in a Murine Model of Mucopolysaccharidosis Type I.

Published in:

PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0117271

By:

Pasqualim, Gabriela;
Baldo, Guilherme;
de Carvalho, Talita Giacomet;
Tavares, Angela Maria Vicente;
Giugliani, Roberto;
Matte, Ursula

Publication type:

Article

Mesenchymal Stem Cells Do Not Prevent Antibody Responses against Human α-L-Iduronidase when Used to Treat Mucopolysaccharidosis Type I.

Published in:

PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0092420

By:

Martin, Priscila Keiko Matsumoto;
Stilhano, Roberta Sessa;
Samoto, Vivian Yochiko;
Takiya, Christina Maeda;
Peres, Giovani Bravin;
da Silva Michelacci, Yara Maria Correa;
da Silva, Flavia Helena;
Pereira, Vanessa Gonçalves;
D'Almeida, Vânia;
Marques, Fabio Luiz Navarro;
Otake, Andreia Hanada;
Chammas, Roger;
Han, Sang Won

Publication type:

Article

Quantitative Analysis of α-L-Iduronidase Expression in Immunocompetent Mice Treated with the <i>Sleeping Beauty</i> Transposon System.

Published in:

PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0078161

By:

Aronovich, Elena L.;
Hall, Bryan C.;
Bell, Jason B.;
McIvor, R. Scott;
Hackett, Perry B.

Publication type:

Article

Comment on "report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I".

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0697-3

By:

Poletto, Edina;
Matte, Ursula;
Baldo, Guilherme

Publication type:

Article

Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.

Published in:

BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0319-x

By:

Min Jung Kwak;
Rimm Huh;
Jinsup Kim;
Hyung-Doo Park;
Sung Yoon Cho;
Dong-Kyu Jin

Publication type:

Article

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.

Published in:

2016

By:

Gabrielli, Orazio;
Clarke, Lorne A.;
Ficcadenti, Anna;
Santoro, Lucia;
Zampini, Lucia;
Volpi, Nicola;
Coppa, Giovanni V.

Publication type:

Case Study

Normalization and Improvement of CNS Deficits in Mice With Hurler Syndrome After Long-term Peripheral Delivery of BBB-targeted Iduronidase.

Published in:

Molecular Therapy, 2014, v. 22, n. 12, p. 2028, doi. 10.1038/mt.2014.152

By:

El-Amouri, Salim S;
Dai, Mei;
Han, Jing-Fen;
Brady, Roscoe O;
Pan, Dao

Publication type:

Article

Toward reducing immunogenicity of enzyme replacement therapy: altering the specificity of human β-glucuronidase to compensate for α-iduronidase deficiency.

Published in:

PEDS: Protein Engineering, Design & Selection, 2015, v. 28, n. 11, p. 519, doi. 10.1093/protein/gzv041

By:

Huai-Yao Chuang;
Ching-Shu Suen;
Ming-Jing Hwang;
Roffler, Steve R.

Publication type:

Article

Subcutaneous implantation of microencapsulated cells overexpressing α-L-iduronidase for mucopolysaccharidosis type I treatment.

Published in:

Journal of Materials Science: Materials in Medicine, 2017, v. 28, n. 3, p. 1, doi. 10.1007/s10856-017-5844-4

By:

Lagranha, Valeska;
Martinelli, Barbara;
Baldo, Guilherme;
Giacomet de Carvalho, Talita;
Giugliani, Roberto;
Matte, Ursula;
Ávila Testa, Giuseppe

Publication type:

Article

Mucopolysaccharidosis type I and craniosynostosis.

Published in:

Acta Neurochirurgica, 2013, v. 155, n. 10, p. 1973, doi. 10.1007/s00701-013-1831-9

By:

Ziyadeh, Jawad;
Merrer, Martine;
Robert, Matthieu;
Arnaud, Eric;
Valayannopoulos, Vassili;
Rocco, Federico

Publication type:

Article

Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.

Published in:

Nature Chemical Biology, 2013, v. 9, n. 11, p. 739, doi. 10.1038/nchembio.1357

By:

Bie, Haiying;
Yin, Jiang;
He, Xu;
Kermode, Allison R;
Goddard-Borger, Ethan D;
Withers, Stephen G;
James, Michael N G

Publication type:

Article

Hurler Syndrome.

Published in:

2016

By:

K. S., Rao;
S., Adhikari;
S., Singh;
S., Poudel;
S., Basnet;
G., Bishwakarma

Publication type:

Case Study

Treatment of adult MPSI mouse brains with IDUA-expressing mesenchymal stem cells decreases GAG deposition and improves exploratory behavior.

Published in:: Genetic Vaccines & Therapy, 2012, v. 10, n. 1, p. 2, doi. 10.1186/1479-0556-10-2
Publication type:: Article