Results 91 to 100 of about 1,451,354 (224)

Mutation identification of unreported and reported mutation profile in exon 7 of N-Acetylgalactosamine-6-Sulfates (GALNS) gene of mucopolysaccharidosis type IV A (MPS IVA) patients in Indonesia

Journal of Physics: Conference Series, 2020
Mucopolysaccharidosis type IVA (MPS IVA), is an autosomal recessive genetic disorder because of N-acetylgalactosamine-6-sulfate deficiency which causes keratan sulfate and chondroitin sulfate to not degrade in lysosome.
I. Lestari, R. Priambodo, Y. Ariani, C. Hafifah, Abinawanto, D. Sjarif   +5 more
semanticscholar   +1 more source

Successful airway management with King Vision device in a child with Morquio syndrome: case report

Revista de la Facultad de Ciencias de la Salud, 2017
Morquio syndrome also called type IV mucopolysaccharidosis, is a condition produced by lysosomal deposit. Morquio syndrome have several implications in the airway management because is characterized by C1-C2, instability, short height, cervical spine ...
Lina Maritza Guerra, Mario Andrés Zamudio, Jonny Arbey Salazar   +2 more
doaj   +2 more sources

Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy

Diagnostics, 2020
Background: Cardiovascular abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular regurgitation and stenosis and cardiac hypertrophy.
Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin   +8 more
doaj   +1 more source

Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)

Orphanet Journal of Rare Diseases, 2021
Background Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, life-limiting lysosomal storage disease caused by deficient iduronate-2-sulfatase activity.
Joseph Muenzer, Jaco Botha, Paul Harmatz, Roberto Giugliani, Christoph Kampmann, Barbara K. Burton   +5 more
doaj   +1 more source

Radiographic measurements of the trachea in domestic short haired and Persian cats [PDF]

, 2011
Tracheal diameter can be assessed from a thoracic radiograph, with assessment of tracheal diameter in dogs based on ratios between tracheal diameter and a skeletal measurement – however reference ranges are not available for the cat.
Coleman, E., Geary, M., Gunn Moore, D., Hammond, G.   +3 more
core   +1 more source

Application of a policy framework for the public funding of drugs for rare diseases [PDF]

, 2014
BACKGROUND: In many countries, decisions about the public funding of drugs are preferentially based on the results of randomized trials. For truly rare diseases, such trials are not typically available, and approaches by public payers are highly variable.
Christine Seager, D Coyle, Doug Coyle, E Winquist, Eric Winquist, Gerald A. Evans, Janet Martin, Joe T. R. Clarke, N Daniels, R Cookson, Winnie Chan   +10 more
core   +1 more source

Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds

Animal Genetics, Volume 56, Issue 5, October 2025.
Abstract New Zealand (NZ) Huntaway and Heading dogs are working breeds that play active roles on farms across NZ. While these breeds are common in NZ, they are not well‐known elsewhere, and little is understood about their genetic make‐up. Here, we used whole genome sequencing to provide a comprehensive genomic view of 249 working dogs. As first use of
Florence Smith, Thomas Lopdell, Melissa Stephen, Millicent Henry, Keren Dittmer, Hayley Hunt, Nick Sneddon, Liam Williams, Jack Rolfe, Dorian Garrick, Mathew D. Littlejohn   +10 more
wiley   +1 more source

Chondrodystrophic Dogs as a Preclinical Large Animal Model of Discogenic Back Pain

JOR SPINE, Volume 8, Issue 3, September 2025.
This study aims to validate an underutilized canine preclinical model of discogenic back pain model by deep phenotyping several structural and pain associated outcomes with novel findings in the areas of RNA sequencing and whole patch clamp of canine dorsal root ganglion neurons.
Mary K. Heimann, Shirley N. Tang, Gilian Gunsch, Kyle Kuchynsky, Brett Klamer, Fangli Zhao, Megan Co, Maciej Pietrzak, Justin Richards, Jake Klausner, Adam Smith, Kaitlyn Cimney, Sara McBride‐Gagyi, Brad Youngblood, Kara Corps, Candice Askwith, Benjamin A. Walter, Sarah A. Moore, Devina Purmessur   +18 more
wiley   +1 more source

Cervical Cord Decompression and Posterior Cervical Immobilization Following Anterior C1-C2 Subluxation in a Patient with MPS Type IV (Morquio Syndrome) : A Team Approach

Siriraj Medical Journal, 2003
We report a 23 month old gril who presented with right hemiparesis after falling for 6 months. She was also diagnosed with mucopolysaccharidosis type IV (Morquio syndrome) with C1-C2 subluxation.
Suwannee Suraseranivongse, Pornswan Wasant, Achara Sathienkijkanchai, Surin Thanapipatsiri   +3 more
doaj  

Prospective studies of swallowing in Mucopolysaccharidosis II (Hunter syndrome) before and after enzyme treatment [PDF]

, 2011
Case study with the aim to evaluate swallowing pre- and post-enzyme treatment of an individual with Mucopolysaccharidosis, and to analyze whether this treatment caused swallowing improvement.
Ferreira, Ana Carolina Rocha Gomes, Guedes, Zelita Caldeira Ferreira   +1 more
core   +4 more sources