Results 131 to 140 of about 1,973 (193)

Characterization of human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Pichia pastoris as potential enzyme for Mucopolysaccharidosis IVA treatment [PDF]

, 2019
Alméciga-Díaz, Carlos J, Callewaert, Nico, Espejo-Mojica, Angela J, Pimentel-Vera, Luisa N, Rodríguez-López, Alexander, Tiels, Petra, Tomatsu, Shunji, Van Hecke, Annelies   +7 more
core   +1 more source

Novel approach for tracheal resection in Morquio a syndrome with end-stage critical airway obstruction: a UK case series

Orphanet Journal of Rare Diseases
Background Mucopolysaccharidosis (MPS) type IVA is a rare lysosomal storage disorder caused by aberrations of the N-acetyl-galactosamine-6-sulfatase (GALNS) enzyme. MPS IVA is associated with a wide gamut of respiratory and airway disorders that manifest
Johnny Kenth, Elizabeth Maughan, Colin R Butler, Jasleen Gabrie, Maral Rouhani, Benjamin Silver, Olumide K Ogunbiyi, Stuart Wilkinson, Reema Nandi, Robert Walker, Nagarajan Muthialu, Simon Jones, Richard Hewitt, Iain A Bruce   +13 more
doaj   +1 more source

Overcoming the barriers to diagnosis of Morquio A syndrome [PDF]

, 2014
Adeline Tan, Akemi Tanaka, Albert D Yang, Anita Inwood, Antony Fu, Dong Kyu Jin, Hasri Samion, Hsiang-Yu Lin, Jim McGill, Kaustuv Bhattacharya, Michael Fietz, Motomichi Kosuga, Nancy J Mendelsohn, Ok-Hwa Kim, Shanti Balasubramaniam, Shuan-Pei Lin, Teck-Hock Toh, Torayuki Okuyama, Verasak Thamkunanon, Yew Sing Choy, Young Hee Kwun   +20 more
core   +1 more source

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012 [PDF]

, 2016

core   +1 more source

A Novel Missense Mutation of c.965C>T (p.Ala322Val) in the Human <i>GALNS</i> Gene Results in Severe Mucopolysaccharidosis Type IVA. [PDF]

Iran J Pathol
Safavi M, Setoodeh A, Ghoddoosi M.
europepmc   +1 more source

Regulation of lysosomal ion homeostasis by channels and transporters [PDF]

, 2016

core   +1 more source

Identification of Ezetimibe and Pranlukast as Pharmacological Chaperones for the Treatment of the Rare Disease Mucopolysaccharidosis Type IVA. [PDF]

J Med Chem, 2019
Alméciga-Diaz CJ, Hidalgo OA, Olarte-Avellaneda S, Rodríguez-López A, Guzman E, Garzón R, Pimentel-Vera LN, Puentes-Tellez MA, Rojas-Rodriguez AF, Gorshkov K, Li R, Zheng W.   +11 more
europepmc   +1 more source

Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report. [PDF]

J Orthop Case Rep, 2018
Berger-Groch J, Rupprecht M, Stuecker R, Muschol N, Breyer SR.   +4 more
europepmc   +1 more source

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study. [PDF]

Orphanet J Rare Dis, 2019
Leong HY, Abdul Azize NA, Chew HB, Keng WT, Thong MK, Mohd Khalid MKN, Hung LC, Mohamed Zainudin N, Ramlee A, Md Haniffa MA, Yakob Y, Ngu LH.   +11 more
europepmc   +1 more source

Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case. [PDF]

Intractable Rare Dis Res
Shu H, Shang X, Sun Y, Li G, Chen C, Yang J.   +5 more
europepmc   +1 more source