Results 31 to 40 of about 7,143 (200)

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

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

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

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

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

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

Report on advances for pediatricians in 2018: allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery. [PDF]

, 2019
This review reported notable advances in pediatrics that have been published in 2018. We have highlighted progresses in allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology ...
Bernasconi S, Borrelli M, Caffarelli C, Corsello G., Di Pinto R, Gaeta V, Iovane B, Mastrorilli C, Petraroli M, Santamaria F, Santoro A   +10 more
core   +2 more sources

Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses

Diagnostics, 2020
Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders associated with impaired glycosaminoglycans (GAGs) catabolism. In MPS I, II, III, and VII, heparan sulfate (HS) cannot be degraded because of the lack of sufficient activity of the ...
Galina Baydakova, Alex Ilyushkina, Lidia Gaffke, Karolina Pierzynowska, Igor Bychkov, Agnieszka Ługowska, Grzegorz Wegrzyn, Anna Tylki-Szymanska, Ekaterina Zakharova   +8 more
doaj   +1 more source