Results 81 to 90 of about 12,041 (191)

Osteoarthropathy in mucopolysaccharidosis type II.

Clujul medical (1957), 2015
Mucopolysaccharidosis type II (MPS type II, Hunter syndrome) is a rare (~ 1/1500.000), X-linked inherited disorder (affects boys) due to deficiency of the lysosomal enzyme iduronate sulfatase (Xq.28). The complex clinical picture includes osteoarthropathy with a tendency to flexion stiffness and disability.
Ioana, Nascu, Paula, Grigorescu-Sido, Camelia, Al-Khzouz, Simona, Bucerzan, Carmencita, Denes, Cecilia, Lazea   +5 more
openaire   +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

Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy [PDF]

, 2013
For most lysosomal storage diseases (LSDs) affecting the CNS, there is currently no cure. The BBB, which limits the bioavailability of drugs administered systemically, and the short half-life of lysosomal enzymes, hamper the development of effective ...
Albert Ribera, Albert Ruzo, Anna Andaluz, Eduard Ayuso, Enns, Fatima Bosch, Federico Mingozzi, Gemma García-Fructuoso, Hemsley, Hemsley, Jesús Ruberte, Luca Maggioni, Maria Molas, Martí Pumarola, Mercedes Pineda, Miguel Garcia, Mingozzi, Pilar Villacampa, Sandra Motas, Sara Marcó, Sergio Muñoz, Sònia Añor, Virginia Haurigot   +22 more
core   +2 more sources

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

Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II

Pediatric Neurosurgery, 2015
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (EC 3.1.6.13). The purpose of this report is to describe cervical spine magnetic resonance (MRI) findings in MPS II patients and to correlate them with clinical phenotype.
Żuber, A., Jurecka, A., Jurkiewicz, E., Kieć-Wilk, Beata, Tylki-Szymańska, Anna   +4 more
openaire   +3 more sources

Assessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: development of the Caregiver Impact Questionnaire

Journal of Patient-Reported Outcomes, 2019
Background Capturing the impact of caring for patients with debilitating rare disease is important for understanding disease burden. We aimed to develop and validate an instrument to measure the impact on caregivers of caring for children with three ...
Magdalena Harrington, Asha Hareendran, Anne Skalicky, Hilary Wilson, Marci Clark, Jaromir Mikl   +5 more
doaj   +1 more source

Mucopolysaccharidosis type II with inguinal hernia.

Journal of Nepal Health Research Council, 2015
Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive storage disorder caused by deficiency of lysosomal enzyme iduronate-2-sulfatase, causing excess accumulation of glycosaminoglycans in the lysosomes resulting in cellular damage, organ failure and death.
A, Rayamajhi, P J, Pokharel, R, Chapagain, A K, Rayamajhi   +3 more
openaire   +1 more source

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

Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate

Diagnostics
Introduction: Hematopoietic stem cell transplantation (HSCT) comprises one of the two main treatment regimens for patients with mucopolysaccharidoses (MPS).
Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Agnieszka Ługowska, Jolanta Marucha, Katarzyna Drabko, Anna Tylki-Szymańska   +5 more
doaj   +1 more source

Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII [PDF]

, 2013
Since the sequencing of the Canis lupus familiaris genome the dog has become a powerful tool for scientists. Selective breeding has created more than 400 different breeds each representing genetic isolates with breed-specific morphological and behavioral
Hytönen, Marjo
core