Results 61 to 70 of about 8,162 (165)

Synthesis of a C‐2 Functionalized l‐Iduronic Acid Derivative as a Candidate Pharmacological Chaperone for MPS II (Hunter Syndrome)

Chemistry – An Asian Journal, Volume 21, Issue 11, 15 June 2026.
A C‐2 functionalized l‐iduronic acid derivative was designed and synthesized as a candidate pharmacological chaperone for iduronate‐2‐sulfatase (IDS), the enzyme involved in the lysosomal storage disease MPS II (Hunter syndrome). The synthesis overcomes significant synthetic challenges associated with manipulations of L‐ido scaffolds.
Vaibhavi Nagendra, Shifaza Mohamed, Nicholas W. See, Norbert Wimmer, Daniel Neumann, Paul J. Trim, Marten Snel, Aidan J. Brock, Jack K. Clegg, Neha S. Gandhi, Kim M. Hemsley, Adeline A. Lau, Vito Ferro   +12 more
wiley   +1 more source

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

Molecular Genetics and Metabolism Reports, 2017
There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter ...
Olaf Bodamer, Maurizio Scarpa, Christina Hung, Tom Pulles, Roberto Giugliani   +4 more
doaj   +1 more source

Theranostic Advancements in Brain Cancer: Promising Approaches for Emerging Therapy

MedComm – Oncology, Volume 5, Issue 2, June 2026.
Strategies for improving intra‐arterial administration (A) and photodynamic therapy in brain cancer (B). Improving intra‐arterial (IA) administration and photodynamic therapy (PDT) for brain cancer involves enhancing tumor targeting and breaching the blood–brain barrier (BBB). Key strategies include super selective catheterization, using osmotic agents
Bipraban Khanra, Manoj Kumar Sarangi
wiley   +1 more source

Short‐Term Oral Spermidine Supplementation Modifies Aspects of Neurodegenerative Disease in Flies and Mice With MPS III

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Mucopolysaccharidosis type III (MPS III) is a group of autosomal recessive neurodegenerative lysosomal storage disorders that causes progressive cognitive and physical impairment, predominantly in child/early adulthood. The median age of death is 17 years as there is no safe, effective treatment approved.
Helen Beard, Sonia Dayan, Karissa Barthelson, Laura Hewson, Louise V. O'Keefe, Kim M. Hemsley   +5 more
wiley   +1 more source

Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Mucopolysaccharidosis Type IV is a multisystem lysosomal storage disease characterized by severe skeletal dysplasia resulting from impaired degradation of the glycosaminoglycans keratan sulfate and chondroitin‐6‐sulfate. The condition is classified into Types A and B based on the underlying enzyme deficiency.
Mark Wijnen, Evert F. S. van Velsen, J. Gert‐Jan Milhous, Esmee Oussoren, Bram C. J. van der Eerden, Margreet A. E. M. Wagenmakers   +5 more
wiley   +1 more source

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

Management of Difficult Airway in a Patient with Mucopolysaccharidosis Type II

Journal of Pediatric Emergency and Intensive Care Medicine, 2019
Mucopolysaccharidosis type II (MPS II) is a rare, X-linked recessive disease characterized by deficiency of lysosomal iduronate-2-sulfatase. Progressive upper airway obstruction is common in patients with MPS II.
Damla Hanalioğlu, Batuhan Yeke, Ahmet Ziya Birbilen, Serap Sivri, Özlem Tekşam   +4 more
doaj   +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

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

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