Results 71 to 80 of about 7,143 (200)

Virchow-Robin spaces : an anatomic variant or a pathologic sign? [PDF]

, 2009
Virchow-Robin spaces surround blood vessels. Their walls are formed by prolongations of the pia mater and they have no communication with the subarachnoid space. VRS are often seen as well-delineated foci of cerebrospinal fluid signal on MR images.

core  

Drug delivery in overcoming the blood-brain barrier: role of nasal mucosal grafting [PDF]

, 2017
The blood–brain barrier (BBB) plays a fundamental role in protecting and maintaining the homeostasis of the brain. For this reason, drug delivery to the brain is much more difficult than that to other compartments of the body. In order to bypass or cross
Carafa, Maria, Di Marzio, Luisa, Hanieh, PATRIZIA NADIA, Marianecci, Carlotta, Paolino, Donatella, Rinaldi, Federica   +5 more
core   +1 more source

Glycosaminoglycans influence regional mechanics in young but not old Achilles tendons

The Journal of Physiology, Volume 603, Issue 23, Page 7589-7601, December 1, 2025.
Abstract figure legend Glycosaminoglycans (GAGs) are long, polysaccharide chains that are located between collagen fibrils in tendon and decrease with age in many musculoskeletal tissues. Yet, it is unknown whether declines in GAGs with age are responsible for age‐related changes to Achilles tendon mechanics.
Jonathon L. Blank, Jeremy D. Eekhoff, Louis J. Soslowsky   +2 more
wiley   +1 more source

Shared Gene Expression Dysregulation Across Subtypes of Sanfilippo and Morquio Diseases: The Role of PFN1 in Regulating Glycosaminoglycan Levels

Frontiers in Bioscience-Landmark
Background: Mucopolysaccharidosis (MPS) is a class of hereditary metabolic diseases that demonstrate itself by accumulating incompletely degraded glycosaminoglycans (GAGs).
Karolina Wiśniewska, Magdalena Żabińska, Lidia Gaffke, Aneta Szulc, Beata M. Walter, Grzegorz Węgrzyn, Karolina Pierzynowska   +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

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

A case of mucopolysaccharidoses type I with heart involvement during infancy

The Turkish Journal of Pediatrics, 1990
We report a case of mucopolysaccharidoses I with severe cardiac involvement, which was diagnosed on the basis of clinical and laboratory findings even though, symptoms begin to occur in mucopolysaccharidoses after the first year of life.
S Demirsoy, K Gücüyener, R Olguntürk, S Tunaoğlu, D Oğuz   +4 more
doaj  

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

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  

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