Results 41 to 50 of about 8,642 (245)

Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy

Frontiers in Cardiovascular Medicine, 2022
Background: Cardiovascular involvement is among the main features of MPS disorders and it is also a significant cause of morbidity and mortality. The range of manifestations includes cardiac valve disease, conduction abnormalities, left ventricular ...
Fabiano de Oliveira Poswar, Fabiano de Oliveira Poswar, Hallana Souza Santos, Angela Barreto Santiago Santos, Angela Barreto Santiago Santos, Solano Vinicius Berger, Carolina Fischinger Moura de Souza, Roberto Giugliani, Roberto Giugliani, Roberto Giugliani, Guilherme Baldo, Guilherme Baldo, Guilherme Baldo   +12 more
doaj   +1 more source

The Complexity of Pain Management in Children Affected by Mucopolysaccharidoses

Case Reports in Pediatrics, 2017
Mucopolysaccharidoses (MPSs) are a group of rare, genetic lysosomal storage disorders. They are caused by deficiencies of the lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs).
Sabrina Congedi, Chiara Di Pede, Maurizio Scarpa, Angelica Rampazzo, Franca Benini   +4 more
doaj   +1 more source

Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]

, 2020
Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans.
Aguilar, Miriam, Ancona, Devin, Bannasch, Danika, Brown, C. Titus, Cowan, Tina, Knipe, Marguerite, Mansour, Tamer, Moore, Bret, Seada, Haitham, Sebbag, Lionel, Sebbag, Lionel, Thomasy, Sara, Vernau, Karen, Woolard, Kevin   +13 more
core   +3 more sources

The Outcome of Allogeneic Hematopoietic Stem Cell Transplantation From Different Donors in Recipients With Mucopolysaccharidosis

Frontiers in Pediatrics, 2022
There is limited information regarding hematopoietic stem cell transplantation (HSCT) for mucopolysaccharidosis (MPS) IV and VI. This study examined the full donor chimerism, specific lysosomal enzyme levels, and the survival of different MPS children ...
Yuhua Qu, Hao Liu, Likun Wei, Shushan Nie, Wenjiao Ding, Sha Liu, Haiyan Liu, Hua Jiang   +7 more
doaj   +1 more source

Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases

Diagnostics, 2021
Increased activity of dipeptidyl peptidase IV (DPP-IV) was reported earlier in patients with different types of mucopolysaccharidoses. DPP-IV (also known as CD26 lymphocyte T surface antigen) is a transmembrane protein showing protease activity.
Agnieszka Ługowska, Galina Baydakova, Alex Ilyushkina, Ekaterina Zakharova, Hanna Mierzewska, Krystyna Szymańska, Jolanta Wierzba, Jolanta Kubalska, Ałła Graban, Tomasz Kmieć, Barbara Perkowska-Sumiła, Anna Tylki-Szymańska, Małgorzata Bednarska-Makaruk   +12 more
doaj   +1 more source

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure [PDF]

, 2017
The design and conduct of clinical studies to evaluate the effects of novel therapies on central nervous system manifestations in children with neuronopathic mucopolysaccharidoses is challenging.
Adams, H.R. (Heather R.), Clarke, L.A. (L.), Ebbink, B.J. (Johanneke), Escolar, M.L. (Maria L.), Giugliani, R. (Roberto), Harmatz, P. (Paul), Hogan, M. (Melissa), Janzen, D. (Darren), Jones, S.A. (Simon), Kearney, S. (Shauna), Lee, J.H. (Johanna) van der, Morton, J. (Jonathan), Muenzer, J. (Joseph), Rust, S. (Stewart), Semrud-Clikeman, M. (Margaret), Shapiro, E. (Elsa), Wijburg, F.A. (Frits), Yu, Z.-F. (Zi-fan)   +17 more
core   +1 more source

Mucopolysaccharidosis Type I in Children, a Forgotten Diagnosis Responsible for Undiagnosed Musculoskeletal Complaints: Report of Two Cases

Acta Medica, 2020
Mucopolysaccharidoses (MPS) are a subgroup of lysosomal storage disorders. The underlying mechanism of MPS disorders are deficiency in specific enzymes which leads to accumulation of partially degraded glycosaminoglycans (GAGs) in various tissues. A wide
Soheila Hoseinzadeh Moghadam, Masood Ghahvechi, Fatemeh Mozafari, Fatemeh Sayarifard, Mahdieh-Sadat Mousavi, Reza Rostami, Vahid Ziaee   +6 more
doaj   +1 more source

Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation. [PDF]

, 2020
BackgroundMucopolysaccharidosis I (MPS IH) is a lysosomal storage disease treated with hematopoietic cell transplantation (HCT) because it stabilizes cognitive deterioration, but is insufficient to alleviate all somatic manifestations.
A Ghosh, AR Pal, ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories., B Link, Bradley S. Miller, C Peters, C Peters, Chester B. Whitley, DA Stevenson, E Shapiro, E Yasuda, E. Oussoren, EA Braunlin, EA Braunlin, ED Kakkis, EJ Langereis, Elise Northrop, Elizabeth Braunlin, Ellen B. Fung, Ellen Fung, G Malm, I Visigalli, Jakub Tolar, JB Eisengart, JE Wraith, JJ Boelens, JR Hobbs, JS Weisstein, Julie B Eisengart, Julie B. Eisengart, KJ Bjoraker, Kyle Rudser, L Lopez, LA Clarke, LE Polgreen, LE Polgreen, LE Polgreen, Lynda E. Polgreen, M Aldenhoven, M Sifuentes, MA Saif, MD Poe, NE Taylor, NJ Rodgers, Paul J. Orchard, RL Washington, S Laraway, Simon A. Jones, SS Grewal, Troy C. Lund, Weston P. Miller, Y Xue   +51 more
core   +1 more source

Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II. [PDF]

, 2017
Mucopolysaccharidosis I and II are lysosomal storage disorders that, despite treatment with hematopoietic cell transplantation (HCT) and/or enzyme replacement therapy (ERT), continue to cause significant skeletal abnormalities leading to pain, stiffness,
Dickson, Patricia, Kunin-Batson, Alicia, Polgreen, Lynda E, Rudser, Kyle, Utz, Jeanine J, Vehe, Richard K, Whitley, Chester B   +6 more
core   +3 more sources

A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family

Molecular Genetics and Metabolism Reports, 2018
Mucopolysaccharidoses (MPS) type III also termed as Sanfillipo syndrome, involves defect in enzymes required for degradation of heparan sulphate. We report a clinical case of MPS-III later followed by genetic investigation for MPS-III genes SGSH, NAGLU ...
Jyotsna Singh, P.K. Muhammad, Sweta Jain, Aradhna Mathur, Shaista Parveen, Aditi Joshi, Bharathram Uppili, C.V. Shaji, K.A. Kabeer, Suraj Menon, Mohammed Faruq   +10 more
doaj   +1 more source