Works matching Mucopolysaccharidosis

Results: 2601

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

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

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

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

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

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

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

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

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

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

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

Mucopolysaccharidosis type I (Hurler syndrome) and anesthesia: the impact of bone marrow transplantation, enzyme replacement therapy, and fiberoptic intubation on airway management.

Published in:

Pediatric Anesthesia, 2012, v. 22, n. 8, p. 745, doi. 10.1111/j.1460-9592.2012.03897.x

By:

Kirkpatrick, Katherine;
Ellwood, James;
Walker, Robert W. M.

Publication type:

Article

Current and potential therapeutic strategies for mucopolysaccharidoses.

Published in:

Journal of Clinical Pharmacy & Therapeutics, 2014, v. 39, n. 3, p. 215, doi. 10.1111/jcpt.12136

By:

Noh, H.;
Lee, J. I.

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

Anesthetic complications in children with mucopolysaccharidosis.

Published in:

Revista Mexicana de Anestesiología, 2021, v. 44, n. 3, p. 184, doi. 10.35366/99665

By:

Sánchez-Sánchez, Luz María;
Morgado-Pérez, Jesús;
Gutiérrez-Mendoza, Gustavo Edén;
Nissen-Torres, Thor Gustavo

Publication type:

Article

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Published in:

2020

By:

Borges, Pâmella;
Pasqualim, Gabriela;
Giugliani, Roberto;
Vairo, Filippo;
Matte, Ursula

Publication type:

journal article

Improvement in functional gait parameters following corrective thoracolumbar surgery in children affected by Mucopolysaccharidosis 1 (Hurler syndrome).

Published in:

2020

By:

Sundarapandian, Rajkumar;
Jones, Simon;
Broomfield, Alexander;
Hensman, Pauline;
Oxborrow, Neil

Publication type:

journal article

Morphological abnormalities in the white blood cells of a baby with type VI mucopolysaccharidosis.

Published in:

Annales de Biologie Clinique, 2024, v. 82, n. 5, p. 589, doi. 10.1684/abc.2024.1915

By:

Buttice, Ivana;
Demulder, Anne;
De Laet, Corinne;
Empain, Aurelie;
Rozen, Laurence

Publication type:

Article

"Mucopolysaccharidosis syndrome in a 9-Year-old boy: oral-dental management and diagnostic considerations": a case report.

Published in:

BMC Oral Health, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12903-024-04859-6

By:

Nourbakhsh, Nosrat;
Esfahani, Elahe Asnaashari

Publication type:

Article

Association between brain structural anomalies, electroencephalogram and history of seizures in Mucopolysaccharidosis type II (Hunter syndrome).

Published in:

2017

By:

Jiménez-Arredondo, Ramón;
Brambila-Tapia, Aniel;
Mercado-Silva, Francisco;
Ortiz-Aranda, Martha;
Benites-Godinez, Verónica;
Olmos-García-de-ALBA, Graciela;
Figuera, Luis;
Jiménez-Arredondo, Ramón Ernesto;
Brambila-Tapia, Aniel Jessica Leticia;
Mercado-Silva, Francisco Miguel;
Figuera, Luis Eduardo

Publication type:

journal article

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

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

Anthropometric characteristics of four Polish children with mucopolysaccharidosis.

Published in:

2013

By:

Perenc, Lidia

Publication type:

Case Study

Corneal hysteresis in mucopolysaccharidosis I and VI.

Published in:

Acta Ophthalmologica (1755375X), 2012, v. 90, n. 5, p. 445, doi. 10.1111/j.1755-3768.2010.02085.x

By:

Fahnehjelm, Kristina Teär;
Chen, Enping;
Winiarski, Jacek

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

A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV).

Published in:

Pediatric Radiology, 2023, v. 53, n. 5, p. 971, doi. 10.1007/s00247-022-05585-3

By:

Padash, Sirwa;
Obaid, Haron;
Henderson, Robert D. E.;
Padash, Yaseen;
Adams, Scott J.;
Miller, Stephen F.;
Babyn, Paul

Publication type:

Article

Mucopolysaccharidoses: overview of neuroimaging manifestations.

Published in:

2018

By:

Nicolas-Jilwan, Manal;
AlSayed, Moeenaldeen

Publication type:

journal article

Cerebral magnetic resonance findings during enzyme replacement therapy in mucopolysaccharidosis.

Published in:

2017

By:

Matsubara, Yoshiko;
Miyazaki, Osamu;
Kosuga, Motomichi;
Okuyama, Torayuki;
Nosaka, Shunsuke

Publication type:

journal article

Mandibular condyle morphology among patients with mucopolysaccharidosis: An observational study of panoramic radiographs.

Published in:

International Journal of Paediatric Dentistry, 2022, v. 32, n. 5, p. 737, doi. 10.1111/ipd.12952

By:

Schmid‐Herrmann, Carmen Ulrike;
Muschol, Nicole Maria;
Fuhrmann, Vera Ulrike;
Koehn, Anja Friederike;
Lezius, Susanne;
Kahl‐Nieke, Bärbel;
Koehne, Till

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

Histopathologic Changes of the Ear in Canine Models of Mucopolysaccharidosis Types I and VII.

Published in:

Veterinary Pathology, 2011, v. 48, n. 3, p. 616, doi. 10.1177/0300985810384413

By:

Hordeaux, J.;
Deniaud, J.;
Bemelmans, I.;
Bertrand, L.;
Moreau, S.;
Amiaud, J.;
Wyers, M.;
Cherel, Y.;
Colle, M.-A.

Publication type:

Article

Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 20, p. 12693, doi. 10.3390/ijms232012693

By:

Piechnik, Matthew;
Amendum, Paige C.;
Sawamoto, Kazuki;
Stapleton, Molly;
Khan, Shaukat;
Fnu, Nidhi;
Álvarez, Victor;
Pachon, Angelica Maria Herreño;
Danos, Olivier;
Bruder, Joseph T.;
Karumuthil-Melethil, Subha;
Tomatsu, Shunji

Publication type:

Article

Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I—A Mini-Review.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 4785, doi. 10.3390/ijms23094785

By:

Zapolnik, Paweł;
Pyrkosz, Antoni

Publication type:

Article

Cellular and Gene Expression Response to the Combination of Genistein and Kaempferol in the Treatment of Mucopolysaccharidosis Type I.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1058, doi. 10.3390/ijms23031058

By:

Węsierska, Magdalena;
Kloska, Anna;
Medina, Diego L.;
Jakóbkiewicz-Banecka, Joanna;
Gabig-Cimińska, Magdalena;
Radzińska, Marta;
Moskot, Marta;
Malinowska, Marcelina

Publication type:

Article

Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 20, p. 10938, doi. 10.3390/ijms222010938

By:

Giugliani, Roberto;
Martins, Ana Maria;
Okuyama, Torayuki;
Eto, Yoshikatsu;
Sakai, Norio;
Nakamura, Kimitoshi;
Morimoto, Hideto;
Minami, Kohtaro;
Yamamoto, Tatsuyoshi;
Yamaoka, Mariko;
Ikeda, Toshiaki;
So, Sairei;
Tanizawa, Kazunori;
Sonoda, Hiroyuki;
Schmidt, Mathias;
Sato, Yuji

Publication type:

Article

Gene Therapy for Mucopolysaccharidosis Type II—A Review of the Current Possibilities.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5490, doi. 10.3390/ijms22115490

By:

Zapolnik, Paweł;
Pyrkosz, Antoni

Publication type:

Article

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1258, doi. 10.3390/ijms21041258

By:

D'Avanzo, Francesca;
Rigon, Laura;
Zanetti, Alessandra;
Tomanin, Rosella

Publication type:

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

In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency.

Published in:

Ultrasound in Obstetrics & Gynecology, 2000, v. 16, n. 1, p. 87, doi. 10.1046/j.1469-0705.2000.00148.x

By:

Den Hollander, N. S.;
Kleijer, W. J.;
Schoonderwaldt, E. M.;
Los, F. J.;
Wladimiroff, J. W.;
Niermeijer, M. F.

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

Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report.

Published in:

2022

By:

Andrade, Isadora;
Ribeiro, River;
Carneiro, Zumira A.;
Giugliani, Roberto;
Pereira, Catarina;
Cozma, Claudia;
Grinberg, Daniel;
Vilageliu, Lluïsa;
Lourenco, Charles M.

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

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

Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI.

Published in:

Clinical Genetics, 2004, v. 66, n. 3, p. 208, doi. 10.1111/j.1399-0004.2004.00277.x

By:

Azevedo, A.C.M.M.;
Schwartz, I.v.;
Kalakun, L.;
Brustolin, S.;
BurIN, M.G.;
Beheregaray, A.P.C.;
Leistner, S.;
GiuglianI, C.;
Rosa, M.;
Barrios, P.;
Marinho, D.;
Esteves, P.;
Valadares, E.;
Boy, R.;
Horovitz, D.;
MabE, P.;
Silva, L.C.S. Da;
Souza, I.C.N. De;
Ribeiro, M.;
Martins, A.M.

Publication type:

Article

Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians.

Published in:

Clinical Genetics, 2002, v. 62, n. 5, p. 418, doi. 10.1034/j.1399-0004.2002.620512.x

By:

Fraser, J;
Wraith, JE;
Delatycki, MB

Publication type:

Article

Quality of life in mucopolysaccharidoses: construction of a specific measure using the focus group technique.

Published in:

BMC Research Notes, 2018, v. 11, p. 1, doi. 10.1186/s13104-018-3157-4

By:

Oliveira, M. R.;
Schwartz, I.;
Costa, L. S.;
Maia, H.;
Ribeiro, M.;
Guerreiro, L. B.;
Acosta, A.;
Rocha, N. S.

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