Results 81 to 90 of about 1,973 (193)

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  

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben, Ahmed A. Alfares, Ali Al Othaim, Fuad Al Mutairi, Majid Alfadhel, Mohammad Arif Hossain, Mohammed Al Balwi, Mohammed Benmeakel, Wafaa Eyaid   +8 more
core   +1 more source

The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeast

Journal of Genetic Counseling, Volume 33, Issue 5, Page 1026-1034, October 2024.
Abstract The use of expanded carrier screening (ECS) to assess reproductive risk for autosomal recessive (AR) or X‐linked recessive (XLR) conditions has been increasingly integrated into obstetrical care. The aim of this study was to determine what proportion of pediatric patients seen by a medical genetics practice could have had their diagnosis ...
Kelly Roche, Shama P. Khan, Christina Botti, Philip Giampietro, Sharon Anderson, Elena Ashkinadze   +5 more
wiley   +1 more source

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date

American Journal of Medical Genetics Part A, Volume 194, Issue 9, September 2024.
Abstract Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in the United States (December 2019–April 2022).
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K. White, Heather M. McLaughlin, Guillermo Seratti   +13 more
wiley   +1 more source

Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS [PDF]

, 2014
Background - Children with mucopolysaccharidoses (MPS) often have musculoskeletal (MSK) abnormalities. Paediatric Gait, Arms, Legs, and Spine (pGALS), is a simple MSK assessment validated in school-age children to detect abnormal joints.
Chan, Mercedes, Foster, Helen, Hardy, Elizabeth, Hensman, Pauline, Jones, Simon, Rapley, Timothy, Sen, Ethan, Wraith, Edmond   +7 more
core   +2 more sources

Identification of Orthosteric and Allosteric Pharmacological Chaperones for Mucopolysaccharidosis Type IIIB

ChemBioChem, Volume 25, Issue 15, August 1, 2024.
We modeled substrate interactions in NAGLU′s active site and predicted allosteric sites. Virtual screening against a human‐tested molecule database identified potential pharmacological chaperones (PCs). In vitro evaluations confirmed their binding to NAGLU and ability to restore enzymatic activity in MPS IIIB fibroblasts with mutant enzymes.
Juan Camilo Losada, Heidy Triana, Egdda Vanegas, Angela Caro, Alexander Rodríguez‐López, Angela Johana Espejo‐Mojica, Carlos Javier Alméciga‐Diaz   +6 more
wiley   +1 more source

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders [PDF]

, 2014
BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families.
Armstrong, J., Castiñeiras, D., Castro-Gago, M., Cocho, J., Couce, M., Eiris, J., Fernández-Marmiesse, A., Fraga, J., Gouveia, S., Lacerda, L., Morey, M., Pineda, M., Pérez-Poyato, M.   +12 more
core   +2 more sources

Pain management challenges in a patient with mucopolysaccharidosis IVA

Clinical Case Reports, Volume 12, Issue 8, August 2024.
Key Clinical Message It is important to consider all potential pain management modalities including alternative treatment on managing complex pain presentations. Acupuncture is a treatment modality that may result in reduction of pain in patients with significant medical comorbidities due to MPS IVA.
Marcus Gurgius, Sarah Donoghue, Robyn A. Wallace   +2 more
wiley   +1 more source

Data in support of the longitudinal characterization of pulmonary function in children with Mucopolysaccharidoses IVA

Data in Brief, 2019
Mucopolysaccharidoses type IVA (Morquio disease) is a rare, autosomal recessive lysosomal storage disease that causes both obstructive and restrictive airway pathology, with respiratory failure being the primary cause of death.
Johnny J. Kenth, Gabrielle Thompson, Stuart Wilkinson, Simon Jones, I.A. Bruce   +4 more
doaj   +1 more source

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +2 more sources