Works matching DE "MUCOPOLYSACCHARIDOSIS"

Results: 861

Isokinetic muscle strength differences in patients with mucopolysaccharidosis I, II, and VI.

Published in:

Journal of Pediatric Rehabilitation Medicine, 2014, v. 7, n. 4, p. 353, doi. 10.3233/PRM-140305

By:

Taylor, Natalie E.;
Dengel, Donald R.;
Lund, Troy C.;
Rudser, Kyle D.;
Orchard, Paul J.;
Steinberger, Julia;
Whitley, Chester B.;
Polgreen, Lynda E.

Publication type:

Article

Bone health in children with special health care needs.

Published in:: Journal of Pediatric Rehabilitation Medicine, 2014, v. 7, n. 2, p. 107, doi. 10.3233/PRM-140279
Publication type:: Article

Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI.

Published in:

Journal of Pediatric Rehabilitation Medicine, 2014, v. 7, n. 2, p. 159, doi. 10.3233/PRM-140285

By:

Stevenson, David A.;
Rudser, Kyle;
Kunin-Batson, Alicia;
Fung, Ellen B.;
Viskochil, David;
Shapiro, Elsa;
Orchard, Paul J.;
Whitley, Chester B.;
Polgreen, Lynda E.

Publication type:

Article

Functional capacity evaluation of patients with mucopolysaccharidosis.

Published in:

Journal of Pediatric Rehabilitation Medicine, 2012, v. 5, n. 1, p. 37, doi. 10.3233/prm-2012-0194

By:

Guarany, Nicole Ruas;
Schwartz, Ida Vanessa D.;
Guarany, Fábio Coelho;
Giugliani, Roberto

Publication type:

Article

Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4940, doi. 10.3390/ijms26104940

By:

Ago, Yasuhiko;
Khan, Shaukat;
Klipner, Kimberly;
Bradford, Allison;
Tomatsu, Shunji

Publication type:

Article

Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe.

Published in:

2016

By:

Péntek, Márta;
Gulácsi, László;
Brodszky, Valentin;
Baji, Petra;
Boncz, Imre;
Pogány, Gábor;
López-Bastida, Julio;
Linertová, Renata;
Oliva-Moreno, Juan;
Serrano-Aguilar, Pedro;
Posada-de-la-Paz, Manuel;
Taruscio, Domenica;
Iskrov, Georgi;
Schieppati, Arrigo;
Schulenburg, Johann;
Kanavos, Panos;
Chevreul, Karine;
Persson, Ulf;
Fattore, Giovanni;
von der Schulenburg, Johann Matthias Graf

Publication type:

journal article

Iminosugar C‐Glycosides Work as Pharmacological Chaperones of NAGLU, a Glycosidase Involved in MPS IIIB Rare Disease**.

Published in:

Chemistry - A European Journal, 2021, v. 27, n. 44, p. 11291, doi. 10.1002/chem.202101408

By:

Zhu, Sha;
Jagadeesh, Yerri;
Tran, Anh Tuan;
Imaeda, Shuki;
Boraston, Alisdair;
Alonzi, Dominic S.;
Poveda, Ana;
Zhang, Yongmin;
Désiré, Jérôme;
Charollais‐Thoenig, Julie;
Demotz, Stéphane;
Kato, Atsushi;
Butters, Terry D.;
Jiménez‐Barbero, Jesús;
Sollogoub, Matthieu;
Blériot, Yves

Publication type:

Article

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutations (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #599 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/599.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 449, doi. 10.1002/humu.9128

By:

Chi Hwa Kim;
Hye Zin Hwang;
Seng Mi Song;
Kyung Hoon Paik;
Eun Kyung Kwon;
Kwang Bin Moon;
Jeong Hyeok Yoon;
Cheol Kyu Han

Publication type:

Article

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutationsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #599 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/599.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 449, doi. 10.1002/humu.9128

By:

Chi Hwa Kim;
Hye Zin Hwang;
Seng Mi Song;
Kyung Hoon Paik;
Eun Kyung Kwon;
Kwang Bin Moon;
Jeong Hyeok Yoon;
Cheol Kyu Han;
Dong?Kyu Jin

Publication type:

Article

General Anesthesia Management for Adult Mucopolysaccharidosis Patients Undergoing Major Spine Surgery.

Published in:

2019

By:

Tsuchiya, Masahiko;
Terai, Hidetomi;
Mizutani, Koh;
Funai, Yusuke;
Tanaka, Katsuaki;
Yamada, Tokuhiro;
Mori, Takashi;
Nishikawa, Kiyonobu

Publication type:

Case Study

Otologic Manifestations of Hunter Syndrome and Their Relationship with Speech Development.

Published in:

Audiology & Neurotology, 2008, v. 13, n. 3, p. 206, doi. 10.1159/000113511

By:

Cho, Yang-Sun;
Kim, Joon Ho;
Kim, Tae Wook;
Chung, Soo Chan;
Chang, Son-A;
Jin, Dong-Kyu

Publication type:

Article

Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis.

Published in:

2024

By:

Diaz-Ordoñez, Lorena;
Duque-Cordoba, Paola Andrea;
Nieva-Posso, Daniel Andrés;
Saldarriaga, Wilmar;
Gutierrez-Medina, Juan David;
Pachajoa, Harry

Publication type:

Literature Review

Immunoglobulin-G subclass pattern among children with mucopolysaccharidosis attending the genetic clinic of Alexandria University Children's Hospital.

Published in:

Alexandria Journal of Pediatrics, 2022, v. 35, n. 1, p. 1, doi. 10.4103/ajop.ajop_11_22

By:

ElDeriny, Ghada F.;
Marzouk, Iman M.;
Elbanna, Ola A.

Publication type:

Article

Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 6, p. 904, doi. 10.1002/acn3.51772

By:

Bugiani, Marianna;
Abbink, Truus E. M.;
Edridge, Arthur W. D.;
van der Hoek, Lia;
Hillen, Anne E. J.;
van Til, Niek P.;
Hu‐A‐Ng, Gino V.;
Breur, Marjolein;
Aiach, Karen;
Drevot, Philippe;
Hocquemiller, Michaël;
Laufer, Ralph;
Wijburg, Frits A.;
van der Knaap, Marjo S.

Publication type:

Article

Michigan Hand Outcomes Questionnaire for the Evaluation of Patients with Mucopolysaccharidosis.

Published in:

Bulletin of the Hospital for Joint Diseases, 2018, v. 76, n. 2, p. 112

By:

Matos, Marcos A.;
Barboza, Ingrid C. F.;
Ferraz, Marina V. A. R.;
Hembroff, Guy

Publication type:

Article

Is Mucopolysaccharidosis a Cause of Sleep and Speech Disorders? Report of Four Cases?

Published in:

2020

By:

Urgancı, Nafiye;
Kalyoncu, Derya;
Gümüştekin, Reyhan

Publication type:

Case Study

Drug Repositioning Applied to Cardiovascular Disease in Mucopolysaccharidosis.

Published in:

Life (2075-1729), 2022, v. 12, n. 12, p. 2085, doi. 10.3390/life12122085

By:

Villalba Silva, Gerda Cristal;
Steindorff, Thiago;
Silvestri Schuh, Roselena;
Cardoso Flores, Natalia;
Matte, Ursula

Publication type:

Article

THE ACID MUCOPOLYSACCHARIDES OF MAMMALIAN SKIN.

Published in:

British Journal of Dermatology, 1969, v. 81, n. 7, p. 528, doi. 10.1111/j.1365-2133.1969.tb16028.x

By:

Mier, P. D.;
Wood, Maureen

Publication type:

Article

CUTANEOUS CHANGES IN THE MORQUIO SYNDROME.

Published in:

British Journal of Dermatology, 1969, v. 81, n. 1, p. 29, doi. 10.1111/j.1365-2133.1969.tb15916.x

By:

Greaves, M. W.;
Inman, P. M.

Publication type:

Article

Epstein–Barr virus-induced transformation of B cells for the diagnosis of genetic metabolic disorders – enumerative conditions for cryopreservation.

Published in:

Cell Proliferation, 2006, v. 39, n. 1, p. 29, doi. 10.1111/j.1365-2184.2006.00363.x

By:

Mello, A. S.;
Burin, M. G.;
Michellin, K.;
Viapiana, M.;
Giugliani, R.;
Coelho, J. C.;
Bauer, M. E.

Publication type:

Article

Intracisternal enzyme replacement therapy in lysosomal storage diseases: dispersal pathways, regional enzyme concentrations and the effect of posttreatment posture.

Published in:

Neuropathology & Applied Neurobiology, 2013, v. 39, n. 6, p. 681, doi. 10.1111/nan.12010

By:

Jolly, R. D.;
Marshall, N. R.;
Marshall, J.;
Hartman, A.;
Hemsley, K. M.;
Winner, L. K.

Publication type:

Article

Corneal transplantation in a patient with mucopolysaccharidosis type VII (Sly disease).

Published in:

2000

By:

Bergwerk, Katherine;
Falk, Rena E.;
Glasgow, Ben J.;
Rabinowitz, Yaron S.

Publication type:

Case Study

Mediastinal Tracheostoma for Treatment of Tracheostenosis after Tracheostomy in a Patient with Mucopolysaccharidosis-Induced Tracheomalacia.

Published in:

Case Reports in Surgery, 2017, p. 1, doi. 10.1155/2017/2312415

By:

Chikaishi, Yasuhiro;
Kobayashi, Kenichi;
Shinohara, Shuichi;
Taira, Akihiro;
Nabe, Yusuke;
Shinohara, Shinji;
Kuwata, Taiji;
Takenaka, Masaru;
Oka, Soichi;
Hirai, Ayako;
Yoneda, Kazue;
Kuroda, Koji;
Imanishi, Naoko;
Ichiki, Yoshinobu;
Tanaka, Fumihiro

Publication type:

Article

Short-term growth hormone treatment in children with Hurler syndrome after hematopoietic cell transplantation.

Published in:

Bone Marrow Transplantation, 2009, v. 44, n. 5, p. 279, doi. 10.1038/bmt.2009.31

By:

Polgreen, L. E.;
Plog, M.;
Schwender, J. D.;
Tolar, J.;
Thomas, W.;
Orchard, P. J.;
Miller, B. S.;
Petryk, A.

Publication type:

Article

Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation.

Published in:

Bone Marrow Transplantation, 2008, v. 41, n. 12, p. 1005, doi. 10.1038/bmt.2008.20

By:

Polgreen, L. E.;
Tolar, J.;
Plog, M.;
Himes, J. H.;
Orchard, P. J.;
Whitley, C. B.;
Miller, B. S.;
Petryk, A.

Publication type:

Article

Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome.

Published in:

Bone Marrow Transplantation, 2008, v. 41, n. 6, p. 531, doi. 10.1038/sj.bmt.1705934

By:

Tolar, J.;
Grewal, S. S.;
Bjoraker, K. J.;
Whitley, C. B.;
Shapiro, E. G.;
Charnas, L.;
Orchard, P. J.

Publication type:

Article

Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure.

Published in:

Bone Marrow Transplantation, 2007, v. 40, n. 3, p. 225, doi. 10.1038/sj.bmt.1705718

By:

Boelens, J. J.;
Wynn, R. F.;
O'Meara, A.;
Veys, P.;
Bertrand, Y.;
Souillet, G.;
Wraith, J. E.;
Fischer, A.;
Cavazzana-Calvo, M.;
Sykora, K. W.;
Sedlacek, P.;
Rovelli, A.;
Uiterwaal, C. S. P. M.;
Wulffraat, N.

Publication type:

Article

Analysis of factors affecting development of carpal tunnel syndrome in patients with Hurler syndrome after hematopoietic cell transplantation.

Published in:

Bone Marrow Transplantation, 2007, v. 39, n. 6, p. 331, doi. 10.1038/sj.bmt.1705586

By:

Khanna, G.;
Heest, A. E. Van;
Agel, J.;
Bjoraker, K.;
Grewal, S.;
Abel, S.;
Krivit, W.;
Peters, C.;
Orchard, P. J.

Publication type:

Article

Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome.

Published in:

Bone Marrow Transplantation, 2006, v. 38, n. 1, p. 17, doi. 10.1038/sj.bmt.1705401

By:

Cox-Brinkman, J.;
Boelens, J.-J.;
Wraith, J. E.;
O'Meara, A.;
Veys, P.;
Wijburg, F. A.;
Wulffraat, N.;
Wynn, R. F.

Publication type:

Article

Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls.

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 4, p. 631, doi. 10.1007/s00431-012-1703-y

By:

Burton, Barbara;
Giugliani, Roberto

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

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.

Published in:

2008

By:

Wraith, J. Edmond;
Scarpa, Maurizio;
Beck, Michael;
Bodamer, Olaf A.;
De Meirleir, Linda;
Guffon, Nathalie;
Lund, Allan Meldgaard;
Malm, Gunilla;
Van der Ploeg, Ans T.;
Zeman, Jiri;
Meldgaard Lund, Allan

Publication type:

journal article

Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses.

Published in:

2008

By:

Malinowska, Marcelina;
Jakóbkiewicz-Banecka, Joanna;
Kloska, Anna;
Tylki-Szymañska, Anna;
Czartoryska, Barbara;
Piotrowska, Ewa;
Wƙgrzyn, Alicja;
Wƙgrzyn, Grzegorz;
Jakóbkiewicz-Banecka, Joanna;
Tylki-Szymańska, Anna;
Wegrzyn, Alicja;
Wegrzyn, Grzegorz

Publication type:

journal 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

Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation.

Published in:

2004

By:

Heron, Delphine;
Baumann, Clarisse;
Jacques, Jean;
Jean, Benichou;
Harpey, Paul;
Merrer, Martine Le;
Benichou, Jean Jacques;
Harpey, Jean Paul;
Le Merrer, Martine

Publication type:

journal article

Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments.

Published in:

Drugs, 2019, v. 79, n. 10, p. 1103, doi. 10.1007/s40265-019-01147-4

By:

Sawamoto, Kazuki;
Stapleton, Molly;
Alméciga-Díaz, Carlos J.;
Espejo-Mojica, Angela J.;
Losada, Juan Camilo;
Suarez, Diego A.;
Tomatsu, Shunji

Publication type:

Article

Correction to: Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses.

Published in:: 2017
Publication type:: Correction Notice

Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses.

Published in:

Fluids & Barriers of the CNS, 2017, v. 14, p. 1, doi. 10.1186/s12987-017-0073-2

By:

Corte, Amauri Dalla;
de Souza, Carolina F. M.;
Anés, Maurício;
Maeda, Fabio K.;
Lokossou, Armelle;
Vedolin, Leonardo M.;
Gabriela Longo, Maria;
Ferreira, Monica M.;
Perrone, Solanger G. P.;
Balédent, Olivier;
Giugliani, Roberto

Publication type:

Article

Living through liminality? Situating the transitional experience of parents of children with mucopolysaccharidoses.

Published in:

Scandinavian Journal of Caring Sciences, 2022, v. 36, n. 3, p. 614, doi. 10.1111/scs.13026

By:

Somanadhan, Suja;
Brinkley, Aoife;
Larkin, Philip J.

Publication type:

Article

Expression of Long Noncoding RNAs in Fibroblasts from Mucopolysaccharidosis Patients.

Published in:

Genes, 2023, v. 14, n. 2, p. 271, doi. 10.3390/genes14020271

By:

Cyske, Zuzanna;
Gaffke, Lidia;
Pierzynowska, Karolina;
Węgrzyn, Grzegorz

Publication type:

Article

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.

Published in:

2022

By:

Ghafoor, Saima;
Silveira, Karina da Costa;
Qamar, Raheel;
Azam, Maleeha;
Kannu, Peter

Publication type:

Case Study

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

Sanfilippo syndrome: causes, consequences, and treatments.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 269, doi. 10.2147/TACG.S57672

By:

Fedele, Anthony O.

Publication type:

Article

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 245, doi. 10.2147/TACG.S68650

By:

Vairo, Filippo;
Federhen, Andressa;
Baldo, Guilherme;
Riegel, Mariluce;
Burin, Maira;
Leistner-Segal, Sandra;
Giugliani, Roberto

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

Echocardiographic study of paediatric patients with mucopolysaccharidosis.

Published in:

Cardiology in the Young, 2010, v. 20, n. 3, p. 254, doi. 10.1017/S104795110999062X

By:

Leal, Gabriela N.;
de Paula, Ana C.;
Leone, Claádio;
Kim, Chong A.

Publication type:

Article

The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses.

Published in:

Cardiology in the Young, 2009, v. 19, n. 2, p. 170, doi. 10.1017/S1047951109003576

By:

Fesslová, Vlasta;
Corti, Paola;
Sersale, Giovanna;
Rovelli, Attilio;
Russo, Pierluigi;
Mannarino, Savina;
Butera, Gianfranco;
Parini, Rossella

Publication type:

Article

Cardiac involvement in the mucopolysacharidoses - retrospective analysis.

Published in:: Cardiology in the Young, 2005, v. 15, n. S2, p. 68
Publication type:: Article

A Pathological Basis for the Cutaneous Papules of Mucopolysaccharidosis II (The Hunter Syndrome).

Published in:

Journal of Cutaneous Pathology, 1977, v. 4, n. 6, p. 318, doi. 10.1111/j.1600-0560.1977.tb00923.x

By:

Freeman, Robert G.

Publication type:

Article

The Diagnosis of Mucopolysaccharidoses by Electron Microscopy of Skin Biopsies.

Published in:

Journal of Cutaneous Pathology, 1975, v. 2, n. 4, p. 179, doi. 10.1111/j.1600-0560.1975.tb00161.x

By:

Bioulac, P.;
Mercier, M.;
Beylot, C.;
Fontan, D.

Publication type:

Article