Results 111 to 120 of about 32,710 (240)

Anterior segment optical coherence tomography and in vivo confocal microscopy in cases of mucopolysaccharidosis

American Journal of Ophthalmology Case Reports, 2020
Purpose: To report anterior segment evaluation in patients with mucopolysaccharidosis 1 using anterior segment optical coherence tomography and in vivo confocal microscopy.
Ayumi Matoba, Yoshinori Oie, Honami Tanibuchi, Andrew Winegarner, Kohji Nishida   +4 more
doaj   +1 more source

Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A

Developmental Medicine &Child Neurology, Volume 68, Issue 1, Page 82-90, January 2026.
To our knowledge, we are the first to provide constructed disease‐specific growth charts for PCH2A (age 0–18 years). Constructed growth charts (0–2 years) for height, weight, body mass index, and head circumference are compared in a sex‐disaggregated manner to typically developing children. Failure to thrive is evident despite normal caloric intake and
Alice Kuhn, Maren Hackenberg, Anna‐Lena Klauser, Antonia Herrmann, Julia Matilainen, Simone Mayer, Saskia Frölich, Ingeborg Krägeloh‐Mann, Samuel Groeschel, Wibke G. Janzarik   +9 more
wiley   +1 more source

Calculation of continuous reference intervals for biological parameters exhibiting strong age‐dependent level changes: Its application to glycosaminoglycans and sialic acid in urine

JIMD Reports
Glycosaminoglycan (GAG) and sialic acid (total and free) assays are used as first‐line screening tests for the diagnosis of mucopolysaccharidoses and glycoproteinoses, respectively.
Carlos Emilio Rodríguez, Mette Diswall, Anders Olsson, Torleif Jonsson, Eva Johansson, Maria Blomqvist   +5 more
doaj   +1 more source

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. [PDF]

, 2019
IntroductionMucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B).
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Giugliani, Roberto, Gold, Jeffrey I, Harmatz, Paul, Hendriksz, Christian, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, MPS Consensus Programme Co-Chairs, MPS Consensus Programme Steering Committee, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Scarpa, Maurizio, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert   +30 more
core  

Osteochondrosis in horses: An overview of genetic and other factors

Equine Veterinary Journal, Volume 58, Issue 1, Page 6-19, January 2026.
Abstract Osteochondrosis (OC) is a frequent manifestation of developmental orthopaedic disease, and its severe clinical presentation is known as OC dissecans (OCD). OC is defined as a disruption of the endochondral ossification process in the epiphyseal cartilage, and this disease has been reported in different mammalian species, including humans, dogs,
Lola Martinez‐Saez, Pablo J. Marín‐García, M. Lola Llobat   +2 more
wiley   +1 more source

Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome [PDF]

, 2015
Background: It remains unclear to what extent the brain is affected by Maroteaux-Lamy syndrome (MPS VI), a progressive lysosomal storage disorder. While enzyme replacement therapy (ERT) elicits positive effects, the drug cannot cross the blood–brain ...
Aarsen, F.K. (Femke), Brands, M.M.G. (Marion M. G.), Coebergh van den Braak, R.R.J. (Robert), Ebbink, B.J. (Johanneke), Hout, J.M.P. (Johanna) van den, Leguin, M. (Maarten), Ploeg, A.T. (Ans) van der, Plug, I. (Iris), van de Weitgraven, R.L. (Rianne L.)   +8 more
core   +1 more source

Vestronidase Alfa: A Review in Mucopolysaccharidosis VII

BioDrugs, 2019
Mucopolysaccharidosis VII is an extremely rare, autosomal recessive lysosomal storage disorder characterized by a deficiency of β-glucuronidase activity, resulting in partial degradation and accumulation of GAGs in numerous tissues throughout the body ...
Emma H. McCafferty, L. Scott
semanticscholar   +1 more source

Social functioning and behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome] [PDF]

, 2017
Background: Mucopolysaccharidosis type IH (MPS-IH) [Hurlers Syndrome] is a developmental genetic disorder characterised by severe physical symptoms and cognitive decline.
C Pitt, CA Mazefsky, CJ Colletti, D Moore, E Plasschaert, E Shapiro, EG Shapiro, EM Dykens, J Constantino, J Moss, J-F Lepage, JA Owens, JB Eisengart, JN Constantino, K D’Aco, KA Driscoll, KJ Bjoraker, L Quine, L Quine, L Wiggs, LV Mahon, M Aldenhoven, MC Bax, MK Cousino, P Arn, RR Abidin, S Garg, TM Achenbach, WJ Krivit   +28 more
core   +3 more sources

Identification of ezetimibe and pranlukast as pharmacological chaperones for treatment of the rare disease Mucopolysaccharidosis type IVA.

Journal of Medicinal Chemistry, 2019
Mucopolysaccharidosis IVA (MPS IVA) is a rare disease caused by mutations in the gene encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS).
C. Alméciga-Díaz, O. A. Hidalgo, S. Olarte-Avellaneda, Alexander Rodríguez-López, E. Guzmán, Rafael Garzón, L. N. Pimentel-Vera, María Alejandra Puentes-Tellez, A. Rojas-Rodriguez, Kirill Gorshkov, Rong Li, Wei Zheng   +11 more
semanticscholar   +1 more source

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America [PDF]

, 2014
This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available.
Acosta, Angelina, Amartino, Hernán, Cabello, Juan Francisco, Garzón, Luz Norela Correa, Giugliani, Roberto, Guelbert, Norberto, Hawilou, Antonieta Mahfoud, Lemes, Aída, Martins, Ana Maria, Santos, Mara Lucia Schmitz Ferreira, Valdez, C. Araceli Arellano, Villarreal, Martha Luz Solano   +11 more
core   +5 more sources