Works matching Mucopolysaccharidosis

Results: 2549

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Anthropometric characteristics of four Polish children with mucopolysaccharidosis.

Published in:

2013

By:

Perenc, Lidia

Publication type:

Case Study

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

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

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

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

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

Adeno-associated viral gene therapy for mucopolysaccharidoses exhibiting neurodegeneration.

Published in:

Journal of Molecular Medicine, 2017, v. 95, n. 10, p. 1043, doi. 10.1007/s00109-017-1562-0

By:

Lau, Adeline;
Hemsley, Kim

Publication type:

Article

Mukopolysacharidózy z pohledu otorinolaryngologa.

Published in:

Otorhinolaryngology & Phoniatrics / Otorinolaryngologie a Foniatrie, 2018, v. 67, n. 3, p. 62

By:

Murgašová, L.;
Jurovčík, M.;
Biskupová, V.;
Pavlíčková, J.;
Magner, M.

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

A novel approach in diagnosing multiple dentigerous cysts using CBCT illustration indicative of Mucopolysaccharidosis VI -- a case report.

Published in:

Journal of Medicine & Life, 2022, v. 15, n. 4, p. 579, doi. 10.25122/jml-2021-0288

By:

Rai, Shalu;
Misra, Deepankar;
Misra, Akansha;
Jain, Ankit;
Verma, Ashish;
Grover, Dimple;
Haris, Ayesha

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

Síndrome de Hurler-Scheie: mucopolisacaridosis tipo I.

Published in:

2015

By:

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

Publication type:

Case Study

Avaliação do consumo alimentar de pacientes com mucopolissacaridose.

Published in:

Scientia Medica, 2014, v. 24, n. 1, p. 19, doi. 10.15448/1980-6108.2014.1.14485

By:

Leite, Roberta B.;
Leite, Maria Efigênia Q.;
Freitas, Júlia D. D.;
Mendes, Carlos M. C.;
Deiró, Tereza C. B. J.;
Acosta, Angelina X.

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

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

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

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

The role of imaging in the skeletal involvement of mucopolysaccharidoses.

Published in:

Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0556-z

By:

Spina, Vincenzo;
Barbuti, Domenico;
Gaeta, Alberto;
Palmucci, Stefano;
Soscia, Ernesto;
Grimaldi, Marco;
Leone, Antonio;
Manara, Renzo;
Polonara, Gabriele

Publication type:

Article

ENT and mucopolysaccharidoses.

Published in:

Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0555-0

By:

Bianchi, Pier Marco;
Gaini, Renato;
Vitale, Silvano

Publication type:

Article

Anesthesiological risks in mucopolysaccharidoses.

Published in:

Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0554-1

By:

Moretto, Alessandra;
Bosatra, Maria Grazia;
Marchesini, Laura;
Tesoro, Simonetta

Publication type:

Article

Mucopolysaccharidoses: early diagnostic signs in infants and children.

Published in:

Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0550-5

By:

Galimberti, Cinzia;
Madeo, Annalisa;
Di Rocco, Maja;
Fiumara, Agata

Publication type:

Article

Heparin Co-factor II Thrombin Complex as a Biomarker for Mucopolysaccharidosis: Indian Experience.

Published in:

Indian Pediatrics, 2014, v. 51, n. 2, p. 128, doi. 10.1007/s13312-014-0344-9

By:

PANDEY, SANJEEV KUMAR;
SINGH, ANKUR;
DUBEY, A. P.;
MISHRA, T. K.;
KAPOOR, SEEMA

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

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

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

Anaesthetic management of patients with mucopolysaccharidosis IV presenting for major orthopaedic surgery.

Published in:

1999

By:

Bartz, H.-J.;
Wiesner, L.;
Wappler, F.

Publication type:

journal article

Mucopolysaccharidoses type IV A (Morquio syndrome): A case series of three siblings.

Published in:

Journal of the Indian Society of Pedodontics & Preventive Dentistry, 2012, v. 30, n. 1, p. 66, doi. 10.4103/0970-4388.95586

By:

Rekka, P.;
Rathna, P. V.;
Jagadeesh, S.;
Seshadri, S.

Publication type:

Article