Works matching DE "MUCOPOLYSACCHARIDOSIS II"

Results: 113

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

Ultrasonographic evaluation of the median nerve at the level of the carpal tunnel outlet and mid forearm in patients with type II Mucopolysaccharidosis.

Published in:

2016

By:

Bocsa, Corina;
Asavoaie, Carmen;
Bucerzan, Simona;
Nascu, Ioana;
Brumboiu, Irina;
Al-Khzouz, Camelia

Publication type:

journal article

Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 8, p. 2014, doi. 10.3390/ijms20082014

By:

Rigon, Laura;
Salvalaio, Marika;
Pederzoli, Francesca;
Legnini, Elisa;
Duskey, Jason Thomas;
D'Avanzo, Francesca;
De Filippis, Concetta;
Ruozi, Barbara;
Marin, Oriano;
Vandelli, Maria Angela;
Ottonelli, Ilaria;
Scarpa, Maurizio;
Tosi, Giovanni;
Tomanin, Rosella

Publication type:

Article

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II MouseModel.

Published in:

International Journal of Molecular Sciences, 2017, v. 18, n. 5, p. 1072, doi. 10.3390/ijms18051072

By:

Salvalaio, Marika;
D’Avanzo, Francesca;
Rigon, Laura;
Zanetti, Alessandra;
D’Angelo, Michela;
Valle, Giorgio;
Scarpa, Maurizio;
Tomanin, Rosella

Publication type:

Article

Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders.

Published in:

International Journal of Molecular Sciences, 2016, v. 17, n. 7, p. 1065, doi. 10.3390/ijms17071065

By:

Francisca Coutinho, Maria;
Inês Santos, Juliana;
Alves, Sandra

Publication type:

Article

Hunter's syndrome: A case report.

Published in:

2015

By:

Savitha, N. S.;
G., Saurabh;
Krishnamoorthy, S. H.;
Nandan, S.;
Ambili, A.

Publication type:

Case Study

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.

Published in:

Journal of Molecular Medicine, 2017, v. 95, n. 3, p. 299, doi. 10.1007/s00109-016-1484-2

By:

Grodecká, L.;
Kováčová, T.;
Kramárek, M.;
Seneca, S.;
Stouffs, K.;
De Laet, C.;
Majer, F.;
Kršjaková, T.;
Hujová, P.;
Hrnčířová, K.;
Souček, P.;
Lissens, W.;
Buratti, E.;
Freiberger, Tomas

Publication type:

Article

Letter to the Editor concerning "Rotational vertebral artery occlusion ('bow hunter syndrome')" by Schulz R, Donoso R, Weissman K (Eur Spine J. 2021 Jan 2. doi:10.1007/s00586-020-06, 680-5).

Published in:

2021

By:

Missori, Paolo;
Currà, Antonio;
Peschillo, Simone;
Paolini, Sergio

Publication type:

Letter

Production and characterization of a human lysosomal recombinant iduronate‐2‐sulfatase produced in Pichia pastoris.

Published in:

Biotechnology & Applied Biochemistry, 2018, v. 65, n. 5, p. 655, doi. 10.1002/bab.1660

By:

Pimentel, Natalia;
Rodríguez‐Lopez, Alexander;
Díaz, Sergio;
Losada, Juan C.;
Díaz‐Rincón, Dennis J.;
Cardona, Carolina;
Espejo‐Mojica, Ángela J.;
Ramírez, Aura M.;
Ruiz, Fredy;
Landázuri, Patricia;
Poutou‐Piñales, Raúl A.;
Cordoba‐Ruiz, Henry A.;
Alméciga‐Díaz, Carlos J.;
Barrera‐Avellaneda, Luis A.

Publication type:

Article

Perioperative airway management for aortic valve replacement in an adult with mucopolysaccharidosis type II (Hunter syndrome).

Published in:

2018

By:

Suzuki, Kazuchika;
Sakai, Hiroaki;
Takahashi, Kenji

Publication type:

Case Study

Hunter's syndrome and the airway: Implications for the anesthesiologist - A correspondence.

Published in:

2017

By:

Chatterjee, Nilay;
Davis, Josemine;
Ganesamoorthi, Arimanickam

Publication type:

Letter to the Editor

Characteristic 'pebbling' skin eruption as a presenting sign of Hunter syndrome.

Published in:

International Journal of Dermatology, 2014, v. 53, n. 12, p. e594, doi. 10.1111/ijd.12206

By:

Noh, Tai Kyung;
Han, Ji Su;
Won, Chong Hyun;
Chang, Sungeun;
Choi, Jee Ho;
Moon, Kee Chan;
Lee, Mi Woo;
Yang, Ji Hye;
Soung, Jai Hyun

Publication type:

Article

Mucopolysaccharidosis type III ( Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder.

Published in:

Acta Paediatrica, 2013, v. 102, n. 5, p. 462, doi. 10.1111/apa.12169

By:

Wijburg, Frits A;
Węgrzyn, Grzegorz;
Burton, Barbara K;
Tylki‐Szymańska, Anna

Publication type:

Article

Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up.

Published in:

Acta Paediatrica, 2012, v. 101, n. 1, p. e42, doi. 10.1111/j.1651-2227.2011.02385.x

By:

Tylki- Szymanska, A;
Jurecka, A;
Zuber, Z;
Rozdzynska, A;
Marucha, J;
Czartoryska, B

Publication type:

Article

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.

Published in:

2017

By:

Ghosh, Arunabha;
Shapiro, Elsa;
Rust, Stewart;
Delaney, Kathleen;
Parker, Samantha;
Shaywitz, Adam J.;
Morte, Adelaida;
Bubb, Gillian;
Cleary, Maureen;
Tien Bo;
Lavery, Christine;
Bigger, Brian W.;
Jones, Simon A.;
Bo, Tien

Publication type:

journal article

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.

Published in:

2017

By:

Muenzer, Joseph;
Jones, Simon A.;
Tylki-Szymańska, Anna;
Harmatz, Paul;
Mendelsohn, Nancy J.;
Guffon, Nathalie;
Giugliani, Roberto;
Burton, Barbara K.;
Scarpa, Maurizio;
Beck, Michael;
Jangelind, Yvonne;
Hernberg-Stahl, Elizabeth;
Paabøl Larsen, Maria;
Pulles, Tom;
Whiteman, David A. H.;
Larsen, Maria Paabøl

Publication type:

journal article

Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.

Published in:

2017

By:

Chiong, Mary Anne D.;
Canson, Daffodil M.;
Abacan, Mary Ann R.;
Baluyot, Melissa Mae P.;
Cordero, Cynthia P.;
Silao, Catherine Lynn T.

Publication type:

journal article

Multi-criteria decision analysis (MCDA): testing a proposed MCDA framework for orphan drugs.

Published in:

2017

By:

Schey, C.;
Krabbe, P. F. M.;
Postma, M. J.;
Connolly, M. P.

Publication type:

journal article

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.

Published in:

2016

By:

Hsiang-Yu Lin;
Chih-Kuang Chuang;
Yu-Hsiu Huang;
Ru-Yi Tu;
Fang-Ju Lin;
Shio Jean Lin;
Pao Chin Chiu;
Dau-Ming Niu;
Fuu-Jen Tsai;
Wuh-Liang Hwu;
Yin-Hsiu Chien;
Ju-Li Lin;
Yen-Yin Chou;
Wen-Hui Tsai;
Tung-Ming Chang;
Shuan-Pei Lin;
Lin, Hsiang-Yu;
Chuang, Chih-Kuang;
Huang, Yu-Hsiu;
Tu, Ru-Yi

Publication type:

journal article

Impact of orphan drugs on Latvian budget.

Published in:

2016

By:

Logviss, Konstantins;
Krievins, Dainis;
Purvina, Santa

Publication type:

journal article

Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis.

Published in:

2016

By:

Rutten, M.;
Ciet, P.;
van den Biggelaar, R.;
Oussoren, E.;
Langendonk, J. G.;
van der Ploeg, A. T.;
Langeveld, M.

Publication type:

journal article

Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome).

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0265-2

By:

Pano, Arian;
Barbier, Ann J;
Bielefeld, Bonnie;
Whiteman, David A. H.;
Amato, David A.

Publication type:

Article

Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0259-0

By:

Guffon, Nathalie;
Heron, Bénédicte;
Chabrol, Brigitte;
Feillet, François;
Montauban, Vincent;
Valayannopoulos, Vassili

Publication type:

Article

The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-101

By:

Raluy-Callado, Mireia;
Chen, Wen-Hung;
Whiteman, David A. H.;
Fang, Juanzhi;
Wiklund, Ingela

Publication type:

Article

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-92

By:

Guillén-Navarro, Encarna;
Domingo-Jiménez, María Rosario;
Alcalde-Martín, Carlos;
Cancho-Candela, Ramón;
Couce, María Luz;
Galán-Gómez, Enrique;
Alonso-Luengo, Olga

Publication type:

Article

Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome).

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-42

By:

Young Bae Sohn;
Sung Yoon Cho;
Sung Won Park;
Su Jin Kim;
Ko, Ah-Ra;
Kwon, Eun-Kyung;
Han, Sun Ju;
Jin, Dong-Kyu

Publication type:

Article

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 72, doi. 10.1186/1750-1172-6-72
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

Editorial.

Published in:

Indian Pediatrics, 2016, v. 53, n. 2, p. 115, doi. 10.1007/s13312-016-0803-6

By:

Rai, Sumit;
Girisha, Katta

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

Growth and Related Treatment Factors in Mucopolysaccharidoses Type I and II: A Systematic Review.

Published in:

Journal of Pediatrics Review, 2023, v. 11, n. 4, p. 301, doi. 10.32598/jpr.11.4.512.4

By:

Tabatabayipoor, Seyed Ebrahim;
Rostampour, Noushin;
Hovsepian, Silva;
Raispour, Homyra;
Hashemipour, Reza;
Khachikian, Arvin;
Hashemipour, Mahin

Publication type:

Article

The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: item reduction and further validation.

Published in:

Quality of Life Research, 2014, v. 23, n. 9, p. 2457, doi. 10.1007/s11136-014-0703-y

By:

Wiklund, Ingela;
Raluy-Callado, Mireia;
Chen, Wen-Hung;
Muenzer, Joseph;
Fang, Juanzhi;
Whiteman, David

Publication type:

Article

The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: evaluation of measurement properties.

Published in:

Quality of Life Research, 2013, v. 22, n. 4, p. 875, doi. 10.1007/s11136-012-0196-5

By:

Wiklund, Ingela;
Raluy-Callado, Mireia;
Stull, Donald;
Jangelind, Yvonne;
Whiteman, David;
Chen, Wen-Hung

Publication type:

Article

Determining the sensory needs of children with Hunter and Sanfilippo syndromes who need hospital treatment.

Published in:

Learning Disability Practice, 2017, v. 20, n. 2, p. 17, doi. 10.7748/ldp.2017.e1790

By:

Page, Andrea;
Gayson, Charlotte;
Vanes, Nicola;
Ashmore, Paul;
McDonnell, Andrew

Publication type:

Article

Early childhood onset of high-grade atrioventricular block in Hunter syndrome.

Published in:

2018

By:

Chlebowski, Meghan M.;
Malloy-Walton, Lindsey E.;
Heese, Bryce A.

Publication type:

journal article

ARDS as a complication of difficult airway management in a patient with Hunter syndrome.

Published in:

2000

By:

Engler, J.;
Waltensdorfer, A.;
Huber, W.;
Zink, M.

Publication type:

Case Study

The diagnosis and management of mucopolysaccharidosis type II.

Published in:

Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01769-9

By:

Mao, Shao-Jia;
Chen, Qing-Qing;
Dai, Yang-Li;
Dong, Guan-Ping;
Zou, Chao-Chun

Publication type:

Article

Oral and craniofacial manifestations in a Hunter syndrome patient with hematopoietic stem cell transplantation: A case report.

Published in:

2018

By:

Torres, Rafaela de Oliveira;
Pintor, Andréa Vaz Braga;
Guedes, Fábio Ribeiro;
Freitas‐Fernandes, Liana Bastos;
Barth, Anneliese Lopes;
Horovitz, Dafne Dain Gandelman;
de Souza, Ivete Pomarico Ribeiro;
Freitas-Fernandes, Liana Bastos

Publication type:

journal article

Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.

Published in:

Experimental & Therapeutic Medicine, 2017, v. 13, n. 6, p. 2989, doi. 10.3892/etm.2017.4303

By:

LUKANA NGIWSARA;
KITIWAN ROJNUEANGNIT;
DUANGRURDEE WATTANASIRICHAIGOON;
THIPWIMOL TIM-AROON;
PHANNEE SAWANGAREETRAKUL;
VORARATT CHAMPATTANACHAI;
KETUDAT-CAIRNS, JAMES R.;
JISNUSON SVASTI

Publication type:

Article

Clinical Advances in Human Gene Therapies.

Published in:

2018

By:

Abbasi, Jennifer

Publication type:

journal article

Clinical utility gene card for: Mucopolysaccharidosis type II.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. -1, doi. 10.1038/ejhg.2011.143

By:

Beck, Michael;
Wijburg, Frits A;
Gal, Andreas

Publication type:

Article

Magnetic Resonance Imaging and Ocular Ultrasound Findings in Mucopolysaccharidosis Type 2.

Published in:

2014

By:

Soemiatno, Yulinda I.;
Flaherty, Maree;
Prelog, Kristina

Publication type:

Image

Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II.

Published in:

PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172435

By:

Gleitz, Hélène F. E.;
O’Leary, Claire;
Holley, Rebecca J.;
Bigger, Brian W.

Publication type:

Article

Biodistribution of Idursulfase Formulated for Intrathecal Use (Idursulfase-IT) in Cynomolgus Monkeys after Intrathecal Lumbar Administration.

Published in:

PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0164765

By:

Chung, Jou-Ku;
Brown, Eilish;
Crooker, Bob;
Palmieri, Kathleen J.;
McCauley, Thomas G.

Publication type:

Article

Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.

Published in:

PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0163964

By:

Saito, Seiji;
Ohno, Kazuki;
Okuyama, Torayuki;
Sakuraba, Hitoshi

Publication type:

Article

A RARE CASE OF HUNTER SYNDROME -CASE REPORT.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2015, v. 64, n. 1, p. 38, doi. 10.37897/rjp.2015.1.8

By:

Melit, Lorena Elena;
Marginean, Oana;
Duicu, Carmen;
Campean, Cristina;
Marginean, Maria Oana

Publication type:

Article

Hunter'S Syndrome and Pebbling of Skin: A Case Report with a Rare Genetic Mutation.

Published in:

2024

By:

Palaniappan, Vijayasankar;
Selvaarasan, Jayapratha;
Karthikeyan, Kaliaperumal;
Asmathulla, S.

Publication type:

Case Study