Works matching DE "MUCOPOLYSACCHARIDOSIS I"

Results: 123

Enzyme replacement therapy in India: Lessons and insights.

Published in:

2018

By:

Muranjan, M;
Karande, S

Publication type:

Editorial

Bilateral carpal tunnel syndrome in mucopolysaccharidosis type II: a case report.

Published in:

2022

By:

Martín-Juste, Pablo;
Parada-Avendaño, Isabel;
Gómez-Palacio, Victoria E.;
Gil-Albarova, Jorge

Publication type:

Case Study

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

Mucopolysaccharidoses I and II: Brief Review of Therapeutic Options and Supportive/Palliative Therapies.

Published in:

BioMed Research International, 2020, p. 1, doi. 10.1155/2020/2408402

By:

Nan, Haiyan;
Park, Chanbum;
Maeng, Sungho

Publication type:

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

Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review.

Published in:

Genes, 2022, v. 13, n. 8, p. 1293, doi. 10.3390/genes13081293

By:

Pillai, Nishitha R.;
Ahmed, Alia;
Vanyo, Todd;
Whitley, Chester B.

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

Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome).

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4521, doi. 10.3390/ijms24054521

By:

Siddiqui, Amna;
Dundar, Halil;
Sharma, Jyoti;
Kaczmarczyk, Aneta;
Echols, Josh;
Dai, Yanying;
Sun, Chuanxi Richard;
Du, Ming;
Liu, Zhong;
Zhao, Rui;
Wood, Tim;
Sanders, Shalisa;
Rasmussen, Lynn;
Bostwick, James Robert;
Augelli-Szafran, Corinne;
Suto, Mark;
Rowe, Steven M.;
Bedwell, David M.;
Keeling, Kim M.

Publication type:

Article

Multimodal imaging of Hurler syndrome-related keratopathy treated with deep anterior lamellar keratoplasty.

Published in:

2020

By:

Da Cunha, Elodie;
Georgeon, Cristina;
Bouheraoua, Nacim;
Putterman, Marc;
Brignole-Baudouin, Françoise;
Borderie, Vincent M.

Publication type:

journal article

Immune response hinders therapy for lysosomal storage diseases.

Published in:

2008

By:

Ponder, Katherine P.

Publication type:

journal article

Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50595-1

By:

Lund, Troy C.;
Miller, Weston P.;
Liao, Ai Yin;
Tolar, Jakub;
Shanley, Ryan;
Pasquali, Marzia;
Sando, Nicole;
Bigger, Brian W.;
Polgreen, Lynda E.;
Orchard, Paul J.

Publication type:

Article

Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome.

Published in:

Science Translational Medicine, 2024, v. 16, n. 745, p. 1, doi. 10.1126/scitranslmed.adi8214

By:

Consiglieri, Giulia;
Tucci, Francesca;
De Pellegrin, Maurizio;
Guerrini, Barbara;
Cattoni, Alessandro;
Risca, Giulia;
Scarparo, Stefano;
Sarzana, Marina;
Pontesilli, Silvia;
Mellone, Renata;
Gasperini, Serena;
Galimberti, Stefania;
Silvani, Paolo;
Filisetti, Chiara;
Darin, Silvia;
Forni, Giulia;
Miglietta, Simona;
Santi, Ludovica;
Facchini, Marcella;
Corti, Ambra

Publication type:

Article

Antibiotics show promise as therapy for genetic disorders.

Published in:

2001

By:

Stephenson, Joan;
Stephenson, J

Publication type:

journal article

Síndrome de Hurler-Scheie: mucopolisacaridosis tipo I.

Published in:

2015

By:

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

Publication type:

Case Study

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

Children with mucopolysaccharidosis risk progressive visual dysfunction despite haematopoietic stem cell transplants.

Published in:

2018

By:

Teär Fahnehjelm, Kristina;
Olsson, Monica;
Chen, Enping;
Hengstler, Jürg;
Naess, Karin;
Winiarski, Jacek

Publication type:

journal 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

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

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

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

Early disease progression of Hurler syndrome.

Published in:

2017

By:

Kiely, Bridget T.;
Kohler, Jennifer L.;
Coletti, Hannah Y.;
Poe, Michele D.;
Escolar, Maria L.

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

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

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

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

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

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

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.

Published in:: Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 22, doi. 10.1186/1750-1172-7-22
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

Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain‐Targeted Therapy.

Published in:

Annals of Neurology, 2023, v. 94, n. 6, p. 1182, doi. 10.1002/ana.26786

By:

Lund, Troy C.;
Braunlin, Elizabeth;
Polgreen, Lynda E.;
Gupta, Ashish O.;
Orchard, Paul J.;
Eisengart, Julie B.

Publication type:

Article

New treatments for the mucopolysaccharidoses: from pathophysiology to therapy.

Published in:

Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0564-z

By:

Fecarotta, Simona;
Gasperini, Serena;
Parenti, Giancarlo

Publication type:

Article

Enzyme replacement therapy: efficacy and limitations.

Published in:

Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0562-1

By:

Concolino, Daniela;
Deodato, Federica;
Parini, Rossella

Publication type:

Article

Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.

Published in:

Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0561-2

By:

Barone, Rita;
Pellico, Alessandra;
Pittalà, Annarita;
Gasperini, Serena

Publication type:

Article

Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists.

Published in:

Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0560-3

By:

Boffi, Lucia;
Russo, Pierluigi;
Limongelli, Giuseppe

Publication type:

Article

Use of Neuraxial Blockade in Cases of Anticipated Difficult Airway in Pediatric Patients -- A Safer Option.

Published in:

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2023, v. 16, p. S140, doi. 10.4103/mjdrdypu.mjdrdypu_61_22

By:

Kulkarni, Kapil;
Singh, Gunjan;
Iqbal, Javed;
Singh, Ajit K.

Publication type:

Article

Emergency bronchoscopy for foreign-body aspiration in a child with type I mucopolysaccharidosis: a challenging airway management experience.

Published in:

Journal of Anesthesia, 2016, v. 30, n. 4, p. 696, doi. 10.1007/s00540-016-2180-7

By:

Kendigelen, Pinar;
Tunali, Yusuf;
Tutuncu, Ayse;
Ashyralyyeva, Gulruh;
Emre, Senol;
Kaya, Guner

Publication type:

Article

Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I.

Published in:

2007

By:

Tokic, Visnja;
Barisic, Ingeborg;
Huzjak, Nevenka;
Petkovic, Giorgie;
Fumic, Ksenija;
Paschke, Eduard

Publication type:

journal article

Tuberous breast deformity in an adolescent girl with Hurler-Scheie syndrome.

Published in:

2000

By:

Barone, Rita;
Pavone, Piero;
Trifiletti, Rosario R.;
Parano, Enrico;
Barone, R;
Pavone, P;
Trifiletti, R R;
Parano, E

Publication type:

Case Study

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

Successful Desensitization in a Patient with Hypersensitivity Reaction to Laronidase.

Published in:

Pediatric Allergy, Immunology & Pulmonology, 2017, v. 30, n. 1, p. 64, doi. 10.1089/ped.2016.0706

By:

Yılmaz, İnsu;
Çağlar, Aslı Sezgin;
Kardas, Fatih;
Karaca, Zuleyha;
Yenigun, Sevim;
Tutar, Nuri

Publication type:

Article

A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring.

Published in:

Clinical Medicine Insights: Case Reports, 2021, p. 1, doi. 10.1177/1179547621999409

By:

Goldman, Eric;
Vu, Angela;
Dietz, Kelly;
Thomas, Stefani N

Publication type:

Article

Mucopolysaccharidosis Type 1 among Children—Neuroradiological Perspective Based on Single Centre Experience and Literature Review.

Published in:

Metabolites (2218-1989), 2023, v. 13, n. 2, p. 209, doi. 10.3390/metabo13020209

By:

Machnikowska-Sokołowska, Magdalena;
Myszczuk, Aleksandra;
Wieszała, Emilia;
Wieja-Błach, Dominika;
Jamroz, Ewa;
Paprocka, Justyna

Publication type:

Article

Markedly Elevated Intracranial Pressure Treated With Cranial Vault Expansion, Instead of CSF Shunting, in a Child With Hurler-Scheie Syndrome and Multiple Suture Craniosynostosis.

Published in:

Cleft Palate Craniofacial Journal, 2019, v. 56, n. 3, p. 395, doi. 10.1177/1055665618777906

By:

Ching, Jessica A.;
Troy, Jared S.;
Ruas, Ernesto J.;
Beckman, Joshua M.;
Tuite, Gerald F.

Publication type:

Article

Mps1 kinase-dependent Sgo2 centromere localisation mediates cohesin protection in mouse oocyte meiosis I.

Published in:

Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00774-3

By:

El Yakoubi, Warif;
Buffin, Eulalie;
Cladière, Damien;
Gryaznova, Yulia;
Berenguer, Inés;
Touati, Sandra A.;
Gómez, Rocío;
Suja, José A.;
van Deursen, Jan M.;
Wassmann, Katja

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

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

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

Novel splice site <italic>IDUA</italic> gene mutation in Tunisian pedigrees with hurler syndrome.

Published in:

Diagnostic Pathology, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13000-018-0710-3

By:

Chkioua, Latifa;
Boudabous, Hela;
Jaballi, Ibtissem;
Grissa, Oussama;
Turkia, Hadhami Ben;
Tebib, Neji;
Laradi, Sandrine

Publication type:

Article