Results 11 to 20 of about 32,710 (240)

Mucopolysaccharidosis Type I [PDF]

Diagnostics, 2020
Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of α-l-iduronidase, leading to the storage of dermatan and heparan sulfate. There is a broad phenotypical spectrum with the presence or absence of neurological impairment.
Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, U. Matte, D. Horovitz, A. Barth, G. Baldo, F. Vairo, R. Giugliani   +8 more
semanticscholar   +4 more sources

Mucopolysaccharidosis-Plus Syndrome [PDF]

International Journal of Molecular Sciences, 2020
Previously, we reported a novel disease of impaired glycosaminoglycans (GAGs) metabolism without deficiency of known lysosomal enzymes—mucopolysaccharidosis-plus syndrome (MPSPS).
F. Vasilev, A. Sukhomyasova, T. Otomo
semanticscholar   +3 more sources

Diagnosing mucopolysaccharidosis IVA [PDF]

Journal of Inherited Metabolic Disease, 2013
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of
A Fujimoto, A James, A Megarbane, A Ohashi, A Tylki-Szymanska, AI Arbisser, AL Beaudet, AM Montano, AN Doman, Andrea Schenone, C Prat, CA Pennock, CB Whitley, CB Whitley, CG Summers, Christian J. Hendriksz, Chunli Yu, D Krakow, David Ketteridge, DH Cohn, DW Hollister, E Baker, E Wessler, EF Neufeld, G Gray, G Kohn, G Nishimura, GR Fraser, H Groebe, H Northover, H Zhao, Heather J. Church, HV Dyggve, J Glossl, J Glossl, J Muenzer, J Nelson, J Singh, J Spranger, JE Wraith, JE Wraith, Jerry N. Thompson, JG Jong de, JG Jong de, JJ Hopwood, JN Isenberg, JP Hintze, K Longdon, K Nakamura, K Ullrich, Karen Tylee, Katie Harvey, LA Martell, LS Levin, M Aldenhoven, M Beck, M Burin, M Masuno, M Piraud, M Shohat, Maira Graeff Burin, Marzia Pasquali, Michael Beck, Michael Fietz, MP Whyte, MV Camelier, Nicole Miller, OP Diggelen van, Otto P. van Diggelen, P Harmatz, Paul Harmatz, R Hata, R Humbel, R Lawrence, R Matalon, Roberto Giugliani, S Catarzi, S Chaisomchit, S Fukuda, S Gosele, S Pajares, S Tomatsu, S Tomatsu, S Tomatsu, S Tomatsu, S Tomatsu, Sara M. Hawley, SB Frazier, T Dierks, T Khaliq, T Oguma, T Wood, T Yutaka, TA Duffey, Timothy C. Wood, TJ Lehman, V El Ghouzzi, VA McKusick, Vânia D’Almeida, W Holzgreve, WJ Kleijer, Wuh-Liang Hwu, Y Miyamoto, Y Nakashima, Yin-Hsiu Chien, Zoltan Lukacs, ZS Gucev   +106 more
core   +7 more sources

Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension. [PDF]

JIMD Rep
Abstract Data from a phase 2/3, randomized, controlled, open‐label, multicenter trial in children with neuronopathic mucopolysaccharidosis II (MPS II; Hunter syndrome) older than 3 years suggested a benefit of intrathecal idursulfase‐IT on cognitive functioning in some patients. We describe a separate, parallel, open‐label, single‐arm, 52‐week substudy
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Rust S, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D.   +14 more
europepmc   +2 more sources

Genomic autopsy in neonatal-onset mucopolysaccharidosis type VII: Key for diagnosis and future planning. [PDF]

Pediatr Int
Pediatrics International, Volume 68, Issue 1, January/December 2026.
Okuno T, Ikawa M, Yuasa M, Muramoto A, Fu L, Matsumoto N, Watanabe A.   +6 more
europepmc   +2 more sources

Mucopolysaccharidosis

Taiwan Journal of Ophthalmology, 2023
Mucopolysaccharidosis are group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes resulting in accumulation of glycosaminoglycans. Over time this accumulation damages cells, tissues, and organs. There are seven types of MPS and 13 subtypes that are associated with multiple organ systems, such as the ...
Kusumitha Bhakthaganesh, Manumuraleekrishna, Murugesan Vanathi, Shifa Ahmed, Noopur Gupta, Radhika Tandon   +5 more
openaire   +3 more sources

Mucopolysaccharidosis [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2015
The mucopolysaccharidoses (MPSs) are a group of rare genetic diseases caused by a deficiency of specific enzymes involved in catabolism of glycosaminoglycans, which causes multisystem abnormalities. Quality of life (QoL) is directly associated with physical, mental, and psychological well-being and with social relationships, including family and ...
Nicole Ruas Guarany PhD, Ana Paula Vanz MD, Matheus Vernet Machado Bressan Wilke, Daniele Dorneles Bender, Mariana Dumer Borges, Roberto Giugliani PhD, Ida Vanessa Doederlein Schwartz PhD   +6 more
openaire   +4 more sources

Mucopolysaccharidosis VI [PDF]

Orphanet Journal of Rare Diseases, 2010
Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births.
Harmatz Paul, Nicely Helen, Valayannopoulos Vassili, Turbeville Sean   +3 more
openaire   +3 more sources

Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT

Journal of Experimental Medicine, 2022
The study demonstrates that dominant-negative effects of the misfolded HGSNAT variant in the mouse model of mucopolysaccharidosis IIIC are treatable by glucosamine.
Xuefang Pan, M. Taherzadeh, Poulomee Bose, Rachel Heon-Roberts, Annie L A Nguyen, Tian-zhao Xu, Camila Pará, Y. Yamanaka, D. Priestman, F. Platt, Shaukat A. Khan, Nidhi Fnu, S. Tomatsu, C. Morales, A. Pshezhetsky   +14 more
semanticscholar   +1 more source

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

medRxiv, 2022
A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane‐tethering protein complexes, HOPS, and CORVET.
Elena V. Pavlova, D. Lev, M. Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, V. K. Dickson, K. Tylee, H. Church, J. Luzio, Timothy M. Cox   +11 more
semanticscholar   +1 more source