Works matching Mucopolysaccharidosis

Results: 2566

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

Newborn screening in mucopolysaccharidoses.

Published in:

Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0552-3

By:

Donati, Maria Alice;
Pasquini, Elisabetta;
Spada, Marco;
Polo, Giulia;
Burlina, Alberto

Publication type:

Article

Mucopolysaccharidosis VI: the Italian experience.

Published in:

2009

By:

Scarpa, Maurizio;
Barone, Rita;
Fiumara, Agata;
Astarita, Luca;
Parenti, Giancarlo;
Rampazzo, Angelica;
Sala, Stefania;
Sorge, Giovanni;
Parini, Rossella

Publication type:

journal 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

Características clínicas, diagnósticas y terapéuticas de la mucopolisacaridosis.

Published in:

Universidad Médica Pinareña, 2023, v. 19, p. 1, doi. 10.5281/zenodo.7897452

By:

Carvajal Gavilanes, John Sebastián;
Plazarte Mullo, José Andrés;
Silva Mata, Marcia Alexandra

Publication type:

Article

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

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

Evaluation of oral manifestations of patients with mucopolysaccharidosis IV and VI: clinical and imaging study.

Published in:

Clinical Oral Investigations, 2018, v. 22, n. 1, p. 201, doi. 10.1007/s00784-017-2100-8

By:

de Almeida-Barros, Renata Quirino;
de Medeiros, Paula Frassinetti Vasconcelos;
de Almeida Azevedo, Marcella Quirino;
de Oliveira Lira Ortega, Adriana;
Yamamoto, Angela Toshie Araki;
Dornelas, Sheyla Kátia Lúcio;
Bento, Patrícia Meira

Publication type:

Article

Achados oculares em pacientes com mucopolissacaridoses.

Published in:

Arquivos Brasileiros de Oftalmologia, 2011, v. 74, n. 6, p. 430, doi. 10.1590/S0004-27492011000600010

By:

SILVA VILLAS-BÔAS, FLÁVIA;
FERNANDES FILHO, DILSON JOSÉ;
XAVIER ACOSTA, ANGELINA

Publication type:

Article

Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 15, p. 3275, doi. 10.3390/jcm10153275

By:

Gadepalli, Chaitanya;
Stepien, Karolina M.;
Sharma, Reena;
Jovanovic, Ana;
Tol, Govind;
Bentley, Andrew

Publication type:

Article

Therapy for the mucopolysaccharidoses.

Published in:

Rheumatology, 2011, v. 50, n. suppl_5, p. v49, doi. 10.1093/rheumatology/ker396

By:

Valayannopoulos, Vassili;
Wijburg, Frits A.

Publication type:

Article

Role of elosulfase alfa in mucopolysaccharidosis IVA.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 67, doi. 10.2147/TACG.S69080

By:

Regier, Debra S.;
Tanpaiboon, Pranoot

Publication type:

Article

Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome).

Published in:

2016

By:

Al Kaissi, Ali;
Kenis, Vladimir;
Melchenko, Eugeniy;
Ghachem, Maher Ben;
Csepan, Robert;
Grill, Franz;
Ganger, Rudolf

Publication type:

journal article

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.

Published in:

2018

By:

Parini, Rossella;
Broomfield, Alexander;
Cleary, Maureen A.;
De Meirleir, Linda;
Di Rocco, Maja;
Fathalla, Waseem M.;
Guffon, Nathalie;
Lampe, Christina;
Lund, Allan M.;
Scarpa, Maurizio;
Tylki‐Szymańska, Anna;
Zeman, Jiří;
Tylki-Szymańska, Anna

Publication type:

journal article

Outcome in six children with mucopolysaccharidosis type IH, hurler syndrome, after haematopoietic stem cell transplantation (HSCT).

Published in:

Acta Paediatrica, 2008, v. 97, n. 8, p. 1108, doi. 10.1111/j.1651-2227.2008.00811.x

By:

Malm, Gunilla;
Gustafsson, Britt;
Berglund, Gunilla;
Lindström, Maria;
Naess, Karin;
Borgström, Birgit;
von Döbeln, Ulrika;
Ringdén, Olle

Publication type:

Article

Animal models for mucopolysaccharidosis disorders and their clinical relevance.

Published in:

Acta Paediatrica, 2007, p. 56, doi. 10.1111/j.1651-2227.2007.00211.x

By:

Haskins, Mark E.

Publication type:

Article

Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses.

Published in:

2018

By:

Maincent, Kim;
Héron, Bénédicte;
Billette de Villemeur, Thierry;
Mayer, Michèle

Publication type:

journal article

Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA.

Published in:

2018

By:

Lin, Hsiang-Yu;
Chen, Ming-Ren;
Lin, Shan-Miao;
Hung, Chung-Lieh;
Niu, Dau-Ming;
Chuang, Chih-Kuang;
Lin, Shuan-Pei

Publication type:

journal article

Recurrent fetal hydrops due to mucopolysaccharidoses type VII.

Published in:

2006

By:

Venkat-Raman, Narayanaswamy;
Sebire, Neil J.;
Murphy, Karl W.

Publication type:

journal 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

Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1343094

By:

Zabihi, Rezvan;
Zamani, Mina;
Aminzadeh, Majid;
Chamanrou, Niloofar;
Kiani, Fatemeh Zahra;
Seifi, Tahere;
Zeighami, Jawaher;
Yadegari, Tahere;
Sedaghat, Alireza;
Saberi, Alihossein;
Hamid, Mohammad;
Shariati, Gholamreza;
Galehdari, Hamid

Publication type:

Article

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing.

Published in:

Frontiers in Genetics, 2023, v. 14, p. 01, doi. 10.3389/fgene.2023.1128850

By:

Gul, Rutaba;
Firasat, Sabika;
Schubert, Mikkel;
Ullah, Asmat;
Peña, Elionora;
Thuesen, Anne C. B.;
Hussain, Mulazim;
Staeger, Frederik F.;
Gjesing, Anette P.;
Albrechtsen, Anders;
Hansen, Torben

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

Genotypes and phenotypes of Sri Lankan Patients with Mucopolysaccharidosis type IVA.

Published in:

Journal of Nepal Paediatric Society, 2022, v. 42, n. 2, p. 80, doi. 10.3126/jnps.v42i2.41954

By:

Indika, Neluwa-Liyanage Ruwan;
Rolfs, Arndt;
Beetz, Christian;
Schröder, Sabine;
Pereira, Catarina;
Skrahina, Volha;
Fernando, Mihika;
Vidanapathirana, Dinesha Maduri;
Jayasena, Subhashinie;
Jasinge, Eresha

Publication type:

Article

Salivary Metabolites in Patients with Mucopolysaccharidosis.

Published in:

Pesquisa Brasileira em Odontopediatria e Clinica Integrada, 2024, v. 24, p. 1, doi. 10.1590/pboci.2024.011

By:

de Oliveira Torres, Rafaela;
Braga Pintor, Andréa Vaz;
da Silva Fidalgo, Tatiana Kelly;
Canedo Valente, Ana Paula;
Bastos Freitas-Fernandes, Liana;
Ribeiro de Souza, Ivete Pomarico

Publication type:

Article

Alterations of mucosa of the larynx and hypopharynx in patients with mucopolysaccharidoses.

Published in:

Journal of Laryngology & Otology, 2016, v. 130, n. 2, p. 194, doi. 10.1017/S0022215115003357

By:

Keilmann, A;
Bendel, F;
Nospes, S;
Läßig, A K;
Lampe, C

Publication type:

Article

Effect of genistein and coenzyme Q10 in oxidative damage and mitochondrial membrane potential in an attenuated type II mucopolysaccharidosis cellular model.

Published in:

Cell Biochemistry & Function, 2024, v. 42, n. 2, p. 1, doi. 10.1002/cbf.3932

By:

Delgado, Camila Aguilar;
Poletto, Edina;
Vera, Luisa Natalia Pimentel;
Jacques, Carlos Eduardo Diaz;
Vianna, Priscila;
Reinhardt, Luiza Steffens;
Baldo, Guilherme;
Vargas, Carmen Regla

Publication type:

Article

Intrathecal baclofen in mucopolysaccharidosis type II (Hunter syndrome): case report.

Published in:

2018

By:

Horn, František;
Petrík, Michal;
Dúbravová, Dana;
Hornová, Jarmila;
Brennerová, Katrína;
Bzduch, Vladimír

Publication type:

Case Study

Otolaryngological findings in mucopolysaccharidosis.

Published in:

Journal of Medical Updates, 2014, v. 4, n. 3, p. 122, doi. 10.2399/jmu.2014003001

By:

Cingi, Cemal;
Muluk, Nuray Bayar;
Hancı, Deniz;
fiahin, Ethem;
Acar, Mustafa

Publication type:

Article

A Clinical Multicenter Study of Orofacial Features in 26 Brazilian Patients With Different Types of Mucopolysaccharidosis.

Published in:

Cleft Palate Craniofacial Journal, 2015, v. 52, n. 3, p. 352, doi. 10.1597/13-204

By:

Ribeiro, Erlane Marques;
Fonteles, Cristiane S. R.;
Freitas, Adriana Bezerra;
la da Silva Alves, Karla Shange;
Monteiro, André Jalles;
da Silva, Carlos Antonio Bruno

Publication type:

Article

Alterations in speech and voice in patients with mucopolysaccharidoses.

Published in:

Logopedics Phoniatrics Vocology, 2014, v. 39, n. 1, p. 30, doi. 10.3109/14015439.2013.776630

By:

Nakarat, Todsaporn;
Läßig, Anne K.;
Lampe, Christina;
Keilmann, Annerose

Publication type:

Article

An Uncommon Presentation of Mucopolysaccharidosis Type IIIb.

Published in:

Iranian Journal of Child Neurology, 2019, v. 13, n. 3, p. 105

By:

REZAYI, Alireza;
FESHANGCHI-BONAB, Mohammad;
TAHERIAN, Reza

Publication type:

Article

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.

Published in:

Clinical Genetics, 2016, v. 90, n. 6, p. 496, doi. 10.1111/cge.12795

By:

Uttarilli, A.;
Ranganath, P.;
Matta, D.;
Md Nurul Jain, J.;
Prasad, K.;
Babu, A.S.;
Girisha, K.M.;
Verma, I.C.;
Phadke, S.R.;
Mandal, K.;
Puri, R.D.;
Aggarwal, S.;
Danda, S.;
Sankar, V.H.;
Kapoor, S.;
Bhat, M.;
Gowrishankar, K.;
Hasan, A.Q.;
Nair, M.;
Nampoothiri, S.

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

Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age–a sibling control study.

Published in:

Clinical Genetics, 2010, v. 77, n. 5, p. 492, doi. 10.1111/j.1399-0004.2009.01324.x

By:

McGill, J. J.;
Inwood, A. C.;
Coman, D. J.;
Lipke, M. L.;
de Lore, D.;
Swiedler, S. J.;
Hopwood, J. J.

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

Assessment, pharmacological therapy and rehabilitation management of musculoskeletal pain in children with mucopolysaccharidoses: a scoping review.

Published in:

2022

By:

Gnasso, R.;
Corrado, B.;
Iommazzo, I.;
Migliore, F.;
Magliulo, G.;
Giardulli, B.;
Ruosi, C.

Publication type:

journal article

Molecular environment and atypical function: What do we know about enzymes associated with Mucopolysaccharidoses?

Published in:

2022

By:

Kong, Weijing;
Lu, Cheng;
Ding, Yingxue;
Meng, Yan

Publication type:

journal article

Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort.

Published in:

2021

By:

Gónzalez-Meneses, Antonio;
Pineda, Mercè;
Bandeira, Anabela;
Janeiro, Patrícia;
Ruiz, María Ángeles;
Diogo, Luisa;
Cancho-Candela, Ramón

Publication type:

journal article

Clinical outcomes of laminoplasty for patients with lysosomal storage disease including mucopolysaccharidosis and mucolipidoses: a retrospective cohort study.

Published in:

2021

By:

Terai, Hidetomi;
Tamai, Koji;
Hoshino, Masatoshi;
Toyoda, Hiromitsu;
Suzuki, Akinobu;
Takahashi, Shinji;
Hori, Yusuke;
Yabu, Akito;
Nakamura, Hiroaki

Publication type:

journal article

Functional results after carpal tunnel release in mucopolysaccharidosis.

Published in:

2021

By:

Giostri, Giana Silveira;
Souza, Camila Deneka Arantes;
Nagai, Alencar Kenji;
Santos, Mara Lucia Schmitz Ferreira;
Sampaio Neto, José Silvany Pacheco;
de Masi Nassif, Flavia David João;
Sampaio, José Silvany Pacheco Neto

Publication type:

journal article

Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy.

Published in:

2018

By:

Holley, Rebecca J.;
Ellison, Stuart M.;
Fil, Daniel;
O'Leary, Claire;
McDermott, John;
Senthivel, Nishanthi;
Langford-Smith, Alexander W. W.;
Wilkinson, Fiona L.;
D'Souza, Zelpha;
Parker, Helen;
Liao, Aiyin;
Rowlston, Samuel;
Gleitz, Hélène F. E.;
Kan, Shih-Hsin;
Dickson, Patricia I.;
Bigger, Brian W.

Publication type:

journal article

Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0972-y

By:

Honjo, Rachel Sayuri;
Vaca, Evelyn Cristina Nuñez;
Leal, Gabriela Nunes;
Abellan, Deipara Monteiro;
Ikari, Nana Miura;
Jatene, Marcelo Biscegli;
Martins, Ana Maria;
Kim, Chong Ae

Publication type:

Article

Anesthesia management in a child with mucopolysaccharidosis and toxic epidermal necrolysis: A case report.

Published in:

Pediatric Anesthesia, 2024, v. 34, n. 1, p. 89, doi. 10.1111/pan.14746

By:

Kawamura, Akihisa;
Tsuboi, Kaoru;
Oka, Aiko;
Sakaguchi, Hirotoshi;
Suzuki, Yasuyuki

Publication type:

Article

A retrospective comparison of propofol to dexmedetomidine for pediatric magnetic resonance imaging sedation in patients with mucopolysaccharidosis type II.

Published in:

Pediatric Anesthesia, 2018, v. 28, n. 12, p. 1116, doi. 10.1111/pan.13514

By:

Kang, RyungA;
Shin, Young Hee;
Gil, Nam‐Su;
Oh, Ye Na;
Hahm, Tae Soo;
Jeong, Ji Seon

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

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Findings in Two Cases with Mucopolysaccharidoses.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2020, v. 50, n. 3, p. 183, doi. 10.4274/tjo.galenos.2020.53503

By:

Karaküçük, Yalçın;
Bozkurt, Banu;
Şahin, Merve;
Okudan, Süleyman

Publication type:

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

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

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