Results 81 to 90 of about 12,452,915 (192)

Challenges in the Management of Mucopolysaccharidosis Type II (Hunter’s Syndrome) in a Developing Country: a Case Report [PDF]

, 2015
BACKGROUND: Mucopolysaccharidosis type II (Hunter's syndrome) is an X-linked chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase with patients rarely living till adulthood. Failure to identify patients early could
Ibraheem, R, Ibraheem, G, AbdulAzeez, A, Oladele, P, Abdulkadri, M, Katibi, S   +5 more
core   +1 more source

Psychological Status in Inherited Metabolic Diseases 1) Psychological Status of Patients with Mucopolysaccharidosis Type II and their Parents 2) Parents of Childhood X-linked Adrenoleukodystrophy : High Risk for Depression and Neurosis [PDF]

, 2008
博士論文 (Doctoral dissertation)1) Psychological Status of Patients with Mucopolysaccharidosis Type II and their Parents2) Parents of Childhood X-linked Adrenoleukodystrophy : High Risk for Depression and ...
倉坪, 和泉
core   +2 more sources

Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS).

, 2011
To evaluate the occurrence of infusion-related reactions (IRRs) in patients with mucopolysaccharidosis type II (MPS II) receiving idursulfase enrolled in the observational database HOS - the Hunter Outcome ...
Barbara K. Burton, Whiteman, DAH, David A.H. Whiteman, Burton, BK, FELICIANI, Claudio   +4 more
core   +1 more source

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome) [PDF]

, 2014
Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28.
F. Masllorens, C. Arberas, A. Cabrera, Amartino, H, Arberas, C., R. Ceci, J. Dipierri, Rozenfeld, Paula Adriana, Bay, L., Gal, A., Arberas, Claudia Liliana, Dipierri, Jose Edgardo, Specola, N., A. Gal, Masllorens, F, R. Ilari, Ceci, Romina, Masllorens, F., Rozenfeld, P., H. Amartino, Ilari,R, Ilari, R., Amartino, H., Cabrera, A, Dipierri, J., Bay, L, L. Bay, Cabrera, A., Specola, N, N. Specola, P. Rozenfeld   +30 more
core   +1 more source

Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future

, 2017
David AH Whiteman,* Alan Kimura* Research & Development, Shire Human Genetic Therapies, Inc., Lexington, MA, USA *These authors contributed equally to this work Abstract: Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is
Whiteman DAH, Kimura A
core  

P012: Measuring non-reducing terminal glycosaminoglycan fragments increases specificity and differentiates mucopolysaccharidosis type I (MPS I) from mucopolysaccharidosis type II (MPS II)

Genetics in Medicine Open, 2023
Taraka Donti, Sara Smith, Sasha Chernenkoff, Madeline Ellgass, Madhuri Hegde   +4 more
doaj   +1 more source

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

Case Reports in Surgery, 2017
Background. Treatment of tracheostenosis after tracheostomy in pediatric patients is often difficult. Mucopolysaccharidosis is a lysosomal storage disease that may induce obstruction of the airways. Case Presentation. A 16-year-old male patient underwent
Yasuhiro Chikaishi, Kenichi Kobayashi, Shuichi Shinohara, Akihiro Taira, Yusuke Nabe, Shinji Shinohara, Taiji Kuwata, Masaru Takenaka, Soichi Oka, Ayako Hirai, Kazue Yoneda, Koji Kuroda, Naoko Imanishi, Yoshinobu Ichiki, Fumihiro Tanaka   +14 more
doaj   +1 more source

Collagen Type II-Targeting Lentiviral Gene Therapy for Mucopolysaccharidosis IVA

Current Issues in Molecular Biology
Mucopolysaccharidosis (MPS IVA) is caused by pathogenic variations in the GALNS gene, leading to the accumulation of glycosaminoglycans in tissues and causing progressive skeletal lesions.
Betul Celik, Sampurna Saikia, Shaukat Khan, Krishna Sai Musini, Shunji Tomatsu   +4 more
doaj   +1 more source

Brain‐targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms

EMBO Molecular Medicine, 2018
The pediatric lysosomal storage disorder mucopolysaccharidosis type II is caused by mutations in IDS, resulting in accumulation of heparan and dermatan sulfate, causing severe neurodegeneration, skeletal disease, and cardiorespiratory disease.
Hélène FE Gleitz, Ai Yin Liao, James R Cook, Samuel F Rowlston, Gabriella MA Forte, Zelpha D'Souza, Claire O'Leary, Rebecca J Holley, Brian W Bigger   +8 more
doaj   +1 more source

Analysis of the upper airway by the acoustic reflection method in children with mucopolysaccharidosis: Acoustic reflection in mucopolysaccharidosis

, 2011
International audienceBackground Upper airway obstruction is common in children with mucopolysaccharidosis. The acoustic reflection method is a noninvasive technique that can analyse the calibre of the upper airways.
Louis, Bruno, Vialle, Raphael, Bénédicte Heron, Bruno Louis, Leboulanger, Nicolas, Fauroux, Brigitte, Nicolas Leboulanger, Brigitte Fauroux, Raphaël Vialle, Héron, Bénédicte   +9 more
core   +1 more source