Results 71 to 80 of about 8,642 (245)

Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy

Cells, 2020
Cathepsins (CTSs) are ubiquitously expressed proteases normally found in the endolysosomal compartment where they mediate protein degradation and turnover.
Valeria De Pasquale, Anna Moles, Luigi Michele Pavone   +2 more
doaj   +1 more source

Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis

JIMD Reports, 2021
Background Mucopolysaccharidoses (MPS) is a group of hereditary multisystemic lysosomal disorders. Most neuroimaging studies in MPS have focused on the supratentorial compartment and craniocervical junction abnormalities, and data regarding posterior ...
Roberta Reichert, Juliano A. Pérez, Amauri Dalla‐Corte, Filippo Pinto e Vairo, Carolina F. M. deSouza, Roberto Giugliani, Gustavo R. Isolan, Marco Antonio Stefani   +7 more
doaj   +1 more source

Lysosomal storage diseases as a complex pathophysiological and clinical problem - part one

Quality in Sport
Lysosomal storage diseases (LSDs) are a group of rare genetic diseases that are characterized by the accumulation of undecomposed molecules in lysosomes due to deficits in specific enzymes.
Karolina Mikołajczak
doaj   +1 more source

Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans—A Diagnostic Prediction Model

Biomolecules, 2023
Impaired glycosaminoglycans (GAGs) catabolism may lead to a cluster of rare metabolic and genetic disorders called mucopolysaccharidoses (MPSs). Each subtype is caused by the deficiency of one of the lysosomal hydrolases normally degrading GAGs. Affected
Francesca D’Avanzo, Alessandra Zanetti, Andrea Dardis, Maurizio Scarpa, Nicola Volpi, Francesco Gatto, Rosella Tomanin   +6 more
doaj   +1 more source

Diagnosing mucopolysaccharidosis IVA [PDF]

, 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   +4 more sources

Early Recognition of Infantile Systemic Hyalinosis in a Palestinian Infant: A Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Infantile systemic hyalinosis should be suspected in infants with contractures, skin changes, and diarrhea in consanguineous families. Early recognition allows timely genetic testing, supportive care, and counseling, improving family outcomes despite poor prognosis.
Lilyan Jarrar, Sara Mutan, Lana Malhis, Ahmad Mashni, Afnan Ajlone, Mahdi Zaid, Sara Abuaisha   +6 more
wiley   +1 more source

Cardiac Involvement in Pediatric Mucopolysaccharidoses Patients and their Genetic Profile: A Retrospective Single-center Study

Journal of the Indian Academy of Echocardiography & Cardiovascular Imaging
Background: Mucopolysaccharidoses (MPS) are rare metabolic disorders of monogenic inheritance, with varying degrees of cardiac involvement due to undegraded glycosaminoglycans getting aggregated in the spongiosa of the cardiac valves, the myocardium, and
Shruti Irene Varghese, Joshua Abishek Christudoss, Rekha Aaron, Sumita Danda, Jesu Krupa   +4 more
doaj   +1 more source

Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]

, 2017
Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María, Franco, Paula Gabriela, Mathieu, Patricia Andrea, Perez, Maria Julia, Setton, Clara Patricia, Silvestroff, Lucas   +5 more
core  

Bedside intubation of a child with a difficult airway—The otolaryngologist perspective

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 3, Page 417-424, September 2025.
Abstract Objectives Children with a difficult airway are prone to severe complications in unplanned intubation events. The otolaryngologist is often required to secure the airway using advanced techniques once the traditional methods have failed to establish safe tracheal intubation.
Inbal Hazkani, Matthew J. Rowland, Maeve A. Serino, Ashley Young, Taher Valika, Saied Ghadersohi, Jonathan B. Ida   +6 more
wiley   +1 more source

Mucopolysaccharidoses

Batna Journal of Medical Sciences (BJMS), 2015
Les Mucopolysaccharidoses (MPS) sont des maladies héréditaires dues à un défaut enzymatique { l’origine de dépôts de glycosaminoglycanes (mucopolysaccharides) au niveau des lysosomes. Ces dépôts vont se retrouver au niveau de tous les organes de façon plus ou moins importante avec des manifestations plus ou moins précoces et plus ou moins parlantes ...
openaire   +2 more sources