Results 31 to 40 of about 8,642 (245)

Pectus carinatum as the key to early diagnosis of Morquio A syndrome: a case report

Journal of Medical Case Reports, 2021
Background A 20-month-old Asian boy with normal growth presented with genu valgum, kyphosis, and pectus carinatum, with no neurological symptoms. No other symptoms suggestive of mucopolysaccharidoses, for example joint contracture and peculiar facies ...
Kento Yamauchi, Daishi Hirano, Miho Wada, Hiroyuki Ida   +3 more
doaj   +1 more source

Arterial pathology in canine mucopolysaccharidosis-I and response to therapy. [PDF]

, 2011
Mucopolysaccharidosis-I (MPS-I) is an inherited deficiency of α-L-iduronidase (IdU) that causes lysosomal accumulation of glycosaminoglycans (GAG) in a variety of parenchymal cell types and connective tissues.
Dickson, Patricia I, Ellinwood, N Matthew, Kakkis, Emil D, Lyons, Jeremiah A, McEntee, Michael F, Passage, Merry B, Wall, Jonathan S   +6 more
core   +3 more sources

Assessment, pharmacological therapy and rehabilitation management of musculoskeletal pain in children with mucopolysaccharidoses: a scoping review

Orphanet Journal of Rare Diseases, 2022
Background Pain of musculoskeletal origin is very common in young patients affected by Mucopolysaccharidoses. This scoping review evaluates the evidence for assessment, pharmacological treatment and rehabilitation management for musculoskeletal pain of ...
R. Gnasso, B. Corrado, I. Iommazzo, F. Migliore, G. Magliulo, B. Giardulli, C. Ruosi   +6 more
doaj   +1 more source

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz, CONTESTABILE, Maria Teresa, FAMELI, VALERIA, Mollo, Roberto, Perdicchi, Andrea, RECUPERO, Santi Maria   +5 more
core   +3 more sources

Cervical spine involvement in pediatric mucopolysaccharidosis patients: Clinical features, early diagnosis, and surgical management

Frontiers in Surgery, 2023
Mucopolysaccharidosis (MPS) is a progressive genetic disease that causes a deficiency in lysosomal enzymes, which play an important role in the degradation pathway of glycosaminoglycans.
Hai-Tao Liu, Jia Song, Fu-Chao Zhou, Zhi-Hui Liang, Qiu-Qi Zhang, Yue-Hui Zhang, Jiang Shao   +6 more
doaj   +1 more source

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. [PDF]

, 2020
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme.
Couce, Maria L., Otero, Francisco J., Piechnik, Matthew, Sawamoto, Kazuki, Suzuki, Yasuyuki, Tomatsu, Shunji, Álvarez González, José Víctor   +6 more
core   +2 more sources

Growth and Related Treatment Factors in Mucopolysaccharidoses Type I and II: A Systematic Review [PDF]

Journal of Pediatrics Review, 2023
Background: There is an association between treatment options and growth in patients with mucopolysaccharidoses (MPS). The appropriate management of MPS is an essential factor for the growth of the patients.
Seyed Ebrahim Tabatabayipoor, Noushin Rostampour, Silva Hovsepian, Homyra Raispour, Reza Hashemipour, Arvin Khachikian, Mahin Hashemipour   +6 more
doaj  

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. [PDF]

, 2013
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests
A Goel, A McDonald, AA Madawi, AL Brooks, AM McLaughlin, AM Montano, AO Ransford, Christian G. Lampe, Christian J. Hendriksz, Christina Lampe, CO Oluigbo, D Shukla, DC Holte, DD Horovitz, DG Hughes, E Castel, ES Lustrin, F Sala, G Solanki, GA Solanki, GA Solanki, GA Solanki, GA Solanki, Guirish A. Solanki, H Elgafy, H Northover, HR Harnsberger, J Ashraf, J Harms, J Nelson, J Nelson, JE Wraith, JF Brailsford, JJ McGill, JK Houten, JM Stevens, JS Torg, JT Kessler, KA Morgan, Kenneth W. Martin, KG Belani, KK White, Klane K. White, L Morquio, M Furujo, Mary C. Theroux, MC Ain, MC Theroux, MD Helgeson, ME Blaw, Michael Beck, MJ Krammer, MM Stecker, O Svensson, P Beighton, Paul R. Harmatz, R Ahmed, R Boor, R Claybrooks, R Lachman, R Lachman, Renée Shediac, RJ Bransford, RW Haid Jr, RW Walker, S Dalvie, S Tomatsu, S Tomatsu, S Ulkatan, SD Boden, SH Lee, SJ Lipson, SY Shinhar, T Gunnarsson, T Henriques, W Müller-Forell, WE Gallie, WG Mackenzie, William G. Mackenzie   +78 more
core   +2 more sources

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

Orphanet Journal of Rare Diseases, 2017
Background Mucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal storage disorder for which there is currently no effective therapy. Though numerous potential therapies are in development, there are several challenges to conducting
Arunabha Ghosh, Elsa Shapiro, Stewart Rust, Kathleen Delaney, Samantha Parker, Adam J Shaywitz, Adelaida Morte, Gillian Bubb, Maureen Cleary, Tien Bo, Christine Lavery, Brian W Bigger, Simon A Jones   +12 more
doaj   +1 more source

Diagnostics of mucopolysaccharidoses presented through the case of sanfilippo syndrome [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2004
Mucopolysaccharidoses (MPS) are recessive inheritable, progressive diseases of disordered degradation and storage of acid glucos-aminoglycans. A five-year old child with psychomotor development retardation, which started at his age of two, was presented ...
Durković Jasmina
doaj   +1 more source