Works matching Mucopolysaccharidosis I

Results: 529

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

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

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 6, p. 911, doi. 10.1007/s00431-011-1644-x

By:

D'Aco, Kristin;
Underhill, Lisa;
Rangachari, Lakshmi;
Arn, Pamela;
Cox, Gerald;
Giugliani, Roberto;
Okuyama, Torayuki;
Wijburg, Frits;
Kaplan, Paige

Publication type:

Article

Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.

Published in:

2018

By:

Kuiper, Gé-Ann;
Meijer, Olga L. M.;
Langereis, Eveline J.;
Wijburg, Frits A.

Publication type:

journal article

Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease.

Published in:

2017

By:

Yu-Hone Hsu;
Ren-Shyan Liu;
Win-Li Lin;
Yeong-Seng Yuh;
Shuan-Pei Lin;
Tai-Tong Wong;
Hsu, Yu-Hone;
Liu, Ren-Shyan;
Lin, Win-Li;
Yuh, Yeong-Seng;
Lin, Shuan-Pei;
Wong, Tai-Tong

Publication type:

journal article

Open issues in Mucopolysaccharidosis type I-Hurler.

Published in:

2017

By:

Parini, Rossella;
Deodato, Federica;
Di Rocco, Maja;
Lanino, Edoardo;
Locatelli, Franco;
Messina, Chiara;
Rovelli, Attilio;
Scarpa, Maurizio

Publication type:

journal article

Mucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children.

Published in:

2016

By:

Soni-Jaiswal, A.;
Mercer, J.;
Jones, S. A.;
Bruce, I. A.;
Callery, P.

Publication type:

journal article

Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0255-4

By:

Pal, Abhijit Ricky;
Langereis, Eveline J.;
Saif, Muhammad A.;
Mercer, Jean;
Church, Heather J.;
Tylee, Karen L.;
Wynn, Robert F.;
Wijburg, Frits A.;
Jones, Simon A.;
Bruce, Iain A.;
Bigger, Brian W.

Publication type:

Article

Ventriculoperitoneal shunt and bilateral herniotomies in mucopolysaccharidosis type I: A surgical challenge.

Published in:

2024

By:

Gupta, Rahul;
Goyal, Manisha;
Tiwari, Raghav;
Bhandari, Anu

Publication type:

Case Study

Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I.

Published in:

Annals of Otology, Rhinology & Laryngology, 2015, v. 124, n. 3, p. 198, doi. 10.1177/0003489414550154

By:

Arn, Pamela;
Bruce, Iain A.;
Wraith, James E.;
Travers, Helen;
Fallet, Shari

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

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

LONG-TERM RESTORATION OF ALPHA-L-IDURONIDASE ACTIVITY IN FIBROBLASTS FROM PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE I AFTER NON-VIRAL GENE TRANSFER.

Published in:

Clinical & Biomedical Research, 2017, v. 37, n. 4, p. 330, doi. 10.4322/2357-9730.74048

By:

de Oliveira Poswar, Fabiano;
Mayer, Fabiana Quoos;
Burin, Maira;
da Silveira Matte, Ursula;
Giugliani, Roberto;
Baldo, Guilherme

Publication type:

Article

Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (<italic>valanafusp alpha</italic>): an open label phase 1-2 trial

Published in:

2018

By:

Giugliani, Roberto;
Giugliani, Luciana;
de Oliveira Poswar, Fabiano;
Donis, Karina Carvalho;
Corte, Amauri Dalla;
Schmidt, Mathias;
Boado, Ruben J.;
Nestrasil, Igor;
Nguyen, Carol;
Chen, Steven;
Pardridge, William M.

Publication type:

journal 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

p. L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 376, doi. 10.1111/cge.12507

By:

Pasqualim, G.;
Ribeiro, M.G.;
da Fonseca, G.G.G.;
Szlago, M.;
Schenone, A.;
Lemes, A.;
Rojas, M.V.M.;
Matte, U.;
Giugliani, R.

Publication type:

Article

Newborn screening of mucopolysaccharidosis type I.

Published in:

Critical Reviews in Clinical Laboratory Sciences, 2022, v. 59, n. 4, p. 257, doi. 10.1080/10408363.2021.2021846

By:

Burlina, Alberto B.;
Gragnaniello, Vincenza

Publication type:

Article

Ocular axial length and corneal refraction in children with mucopolysaccharidosis (MPS I-Hurler).

Published in:

Acta Ophthalmologica (1755375X), 2012, v. 90, n. 3, p. 287, doi. 10.1111/j.1755-3768.2010.01934.x

By:

Fahnehjelm, Kristina Teär;
Törnquist, Alba Lucia;
Winiarski, Jacek

Publication type:

Article

Mucopolysaccharidosis Type I in Mexico: Case-Based Review.

Published in:

Children, 2023, v. 10, n. 4, p. 642, doi. 10.3390/children10040642

By:

Cantú-Reyna, Consuelo;
Vazquez-Cantu, Diana Laura;
Cruz-Camino, Héctor;
Narváez-Díaz, Yuriria Arlette;
Flores-Caloca, Óscar;
González-Llano, Óscar;
Araiza-Lozano, Carolina;
Gómez-Gutiérrez, René

Publication type:

Article

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-147

By:

Shuan-Pei Lin;
Hsiang-Yu Lin;
Tuen-Jen Wang;
Chia-Ying Chang;
Chia-Hui Lin;
Sung-Fa Huang;
Chia-Chen Tsai;
Hsuan-Liang Liu;
Joan Keutzer;
Chih-Kuang Chuang

Publication type:

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

Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.

Published in:

2025

By:

Agranier, Maxime;
Demurger, Florence;
Dubourg, Christele;
Fromageot, Jerome;
Dufour, Anne-Sophie Cabaret;
Launay, Erika;
Gournay, Magalie;
Lefèvre, Charles;
Froissart, Roseline;
Pettazzoni, Magali;
Rollier, Paul

Publication type:

Case Study

Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation.

Published in:

2016

By:

Schmidt, Mona;
Breyer, Sandra;
Löbel, Ulrike;
Yarar, Sinef;
Stücker, Ralf;
Ullrich, Kurt;
Müller, Ingo;
Muschol, Nicole

Publication type:

journal article

Heterotopic ossification following use of i-Factor for spinal fusion in Mucopolysaccharidosis 1: a case report.

Published in:

2018

By:

Oxborrow, Neil;
Sundarapandian, Rajkumar

Publication type:

Case Study

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

Combined Aortic and Mitral Valve Stenosis in Mucopolysaccharidosis Syndrome Type I-S: A Report of a Rare Case.

Published in:

Journal of Tehran University Heart Center, 2021, v. 16, n. 1, p. 31

By:

Sadeghian, Hakimeh;
Sadeghian, Afsaneh;
Eslami, Bahareh;
Abbasi, Seyed Hesameddin;
Lotfi-Tokaldany, Masoumeh

Publication type:

Article

Quantitative diffusion tensor imaging analysis does not distinguish pediatric canines with mucopolysaccharidosis I from control canines.

Published in:

Neuroradiology Journal, 2017, v. 30, n. 5, p. 454, doi. 10.1177/1971400917718844

By:

Middleton, Dana M.;
Li, Jonathan Y.;
Chen, Steven D.;
White, Leonard E.;
Dickson, Patricia I.;
Ellinwood, N. Matthew;
Provenzale, James M.

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

Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study.

Published in:

2017

By:

Viskochil, David;
Muenzer, Joseph;
Guffon, Nathalie;
Garin, Christophe;
Munoz‐Rojas, M Veronica;
Moy, Kristin A;
Hutchinson, Douglas T

Publication type:

journal article

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

Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.

Published in:

2016

By:

Gandelman Horovitz, Dafne Dain;
Acosta, Angelina X.;
Giugliani, Roberto;
Hlavatá, Anna;
Hlavatá, Katarína;
Tchan, Michel C.;
Lopes Barth, Anneliese;
Cardoso Jr., Laercio;
Embiruçu de Araújo Leão, Emília Katiane;
Esposito, Ana Carolina;
Obikawa Kyosen, Sandra;
Moura De Souza, Carolina Fischinger;
Martins, Ana Maria;
Horovitz, Dafne Dain Gandelman;
Cardoso, Laercio Jr;
Kyosen, Sandra Obikawa;
De Souza, Carolina Fischinger Moura

Publication type:

journal article

Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities.

Published in:

Medicina (1010660X), 2022, v. 58, n. 1, p. 97, doi. 10.3390/medicina58010097

By:

Baronio, Federico;
Zucchini, Stefano;
Zulian, Francesco;
Salerno, Mariacarolina;
Parini, Rossella;
Cattoni, Alessandro;
Deodato, Federica;
Gaeta, Alberto;
Bizzarri, Carla;
Gasperini, Serena;
Pession, Andrea

Publication type:

Article

Síndrome de Hurler-Scheie: mucopolisacaridosis tipo I.

Published in:

2015

By:

Pineda-Galindo, Luis F.;
Moranchel-García, Leslie

Publication type:

Case Study

Increased longevity and metabolic correction following syngeneic BMT in a murine model of mucopolysaccharidosis type I.

Published in:

Bone Marrow Transplantation, 2012, v. 47, n. 9, p. 1235, doi. 10.1038/bmt.2011.239

By:

Wolf, D A;
Lenander, A W;
Nan, Z;
Braunlin, E A;
Podetz-Pedersen, K M;
Whitley, C B;
Gupta, P;
Low, W C;
McIvor, R S

Publication type:

Article

Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.

Published in:

2018

By:

Tylki‐Szymańska, Anna;
De Meirleir, Linda;
Di Rocco, Maja;
Fathalla, Waseem M.;
Guffon, Nathalie;
Lampe, Christina;
Lund, Allan M.;
Parini, Rossella;
Wijburg, Frits A.;
Zeman, Jiri;
Scarpa, Maurizio;
Tylki-Szymańska, Anna

Publication type:

journal article

Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights.

Published in:

BMC Endocrine Disorders, 2018, v. 18, n. 1, p. N.PAG, doi. 10.1186/s12902-018-0311-x

By:

Martins, Ana Maria;
Lindstrom, Kristin;
Kyosen, Sandra Obikawa;
Munoz-Rojas, Maria Veronica;
Thibault, Nathan;
Polgreen, Lynda E.

Publication type:

Article

Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.

Published in:

PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0184065

By:

Dornelles, Alícia Dorneles;
Artigalás, Osvaldo;
da Silva, André Anjos;
Ardila, Dora Lucia Vallejo;
Alegra, Taciane;
Pereira, Tiago Veiga;
Vairo, Filippo Pinto e;
Schwartz, Ida Vanessa Doederlein

Publication type:

Article

Evaluation of tendon and ligament microstructure and mechanical properties in a canine model of mucopolysaccharidosis I.

Published in:

Journal of Orthopaedic Research, 2024, v. 42, n. 7, p. 1409, doi. 10.1002/jor.25813

By:

Lau, Yian Khai;
Iyer, Keerthana;
Shetye, Snehal;
Friday, Chet S.;
Dodge, George R.;
Hast, Michael W.;
Casal, Margret L.;
Gawri, Rahul;
Smith, Lachlan J.

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

Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I.

Published in:: 2012
Publication type:: Opinion

IgE-Mediated Hypersensitivity and Desensitisation with Recombinant Enzymes in Pompe Disease and Type I and Type VI Mucopolysaccharidosis.

Published in:

International Archives of Allergy & Immunology, 2016, v. 169, n. 3, p. 198, doi. 10.1159/000446154

By:

Capanoglu, Murat;
Dibek Misirlioglu, Emine;
azkur, Dilek;
Vezir, Emine;
Guvenir, Hakan;
Gunduz, Mehmet;
Toyran, Muge;
Civelek, Ersoy;
Kocabas, Can Naci

Publication type:

Article

Molecular-genetic characterization of Ukrainian patients with mucopolysaccharidosis I: identification of three new mutations in α-L-iduronidase gene.

Published in:

Biopolymers & Cell, 2016, v. 32, n. 6, p. 442, doi. 10.7124/bc.00093B

By:

Trofimova, N. S.;
Olkhovich, N. V.

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

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

The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler).

Published in:

Acta Ophthalmologica (1755375X), 2018, v. 96, n. 5, p. 494, doi. 10.1111/aos.13627

By:

Javed, Ahmed;
Aslam, Tariq;
Jones, Simon A.;
Mercer, Jean;
Tyler, Karen;
Church, Heather;
Ghosh, Arunabha;
Wynn, Robert;
Sornalingam, Krishanthy;
Ashworth, Jane

Publication type:

Article

Intrathecal Gene Therapy Corrects CNS Pathology in a Feline Model of Mucopolysaccharidosis I.

Published in:

Molecular Therapy, 2014, v. 22, n. 12, p. 2018, doi. 10.1038/mt.2014.135

By:

Hinderer, Christian;
Bell, Peter;
Gurda, Brittney L;
Wang, Qiang;
Louboutin, Jean-Pierre;
Zhu, Yanqing;
Bagel, Jessica;
O'Donnell, Patricia;
Sikora, Tracey;
Ruane, Therese;
Wang, Ping;
Haskins, Mark E;
Wilson, James M

Publication type:

Article

244. AAV Vector-Mediated Gene Therapy of Mucopolysaccharidosis Type I

Published in:

2005

By:

Belur, Lalitha;
Lorenzo, Damaris;
Aronovich, Elena;
Low, Walter C.;
Whitley, Chester B.;
McIvor, R. Scott

Publication type:

Abstract

Evaluation and identification of IDUA gene mutations in Turkish patients with mucopolysaccharidosis type I.

Published in:

Turkish Journal of Medical Sciences, 2016, v. 46, n. 2, p. 404, doi. 10.3906/sag-1411-160

By:

ATÇEKEN, Nazente;
ÖZGÜL, Rıza Köksal;
YÜCEL YILMAZ, Didem;
TOKATLI, Ayşegül;
COŞKUN, Turgay;
SİVRİ, Hatice Serap;
DURSUN, Ali;
KARACA, Mehmet

Publication type:

Article

Diffusion tensor imaging findings suggestive of white matter alterations in a canine model of mucopolysaccharidosis type I.

Published in:

Neuroradiology Journal, 2018, v. 31, n. 1, p. 90, doi. 10.1177/1971400917715792

By:

Middleton, Dana M.;
Li, Jonathan Y.;
Chen, Steven D.;
White, Leonard E.;
Dickson, Patricia;
Ellinwood, N. Matthew;
Provenzale, James M.

Publication type:

Article