Results 101 to 110 of about 410,791 (266)

Increased Urinary Excretion of Keratan Sulfate in Fucosidosis [PDF]

Clinical Chemistry and Laboratory Medicine, 1978
In two children exhibiting the clinical symptoms of fucosidosis, the diagnosis was biochemically ascertained by the demonstration of a profound altpha-L-fucosidase deficiency in cultured skin fibroblasts. The non-dialysed urines of these fucosidosis patients were separated into two fractions by chromatography on Biogel P-2.
Greiling, H., Stuhlsatz, H. W., Cantz, M., Gehler, J.   +3 more
openaire   +2 more sources

Progressive Insights into 3D Bioprinting for Corneal Tissue Restoration

Advanced Healthcare Materials, Volume 15, Issue 3, 19 January 2026.
This review explores the potential of 3D bioprinting to replicate the complex structure and function of the human cornea. It highlights key advances in bioink development, printing modalities, and in vivo performance, while addressing current challenges and emerging strategies. The review emphasizes bioprinting's promise to overcome donor shortages and
Ilayda Namli, Deepak Gupta, Yogendra Pratap Singh, Pallab Datta, Muhammad Rizwan, Mehmet Baykara, Ibrahim T. Ozbolat   +6 more
wiley   +1 more source

A corneális sebgyógyulás és az extracelluláris mátrix [PDF]

, 2019
L
Bencze, János, Hortobágyi, Tibor, Módis, László, Varkoly, Gréta   +3 more
core   +3 more sources

Evaluation of AAV vectors with tissue-specific or ubiquitous promoters in a mouse model of mucopolysaccharidosis type IVA

Molecular Therapy: Methods & Clinical Development
Mucopolysaccharidosis type IVA (MPS IVA) is caused by a deficiency of N-acetyl-galactosamine-6-sulfate sulfatase (GALNS), leading to the accumulation of keratan sulfate and chondroitin-6-sulfate and development of severe skeletal dysplasia.
Shaukat A. Khan, Jose Victor Álvarez, F.N.U. Nidhi, Eliana Benincore-Florez, Shunji Tomatsu   +4 more
doaj   +1 more source

Avian neural crest cell migration is diversely regulated by the two major hyaluronan-binding proteoglycans PG-M/versican and aggrecan [PDF]

, 2000
It has been proposed that hyaluronan-binding proteoglycans play an important role as guiding cues during neural crest (NC) cell migration, but their precise function has not been elucidated.
Bellina, Isabella, Bronner-Fraser, Marianne, Colombatti, Alfonso, Doliana, Roberto, Iacopetti, Paola, Kimata, Koji, Löfberg, Jan, Mörgelin, Matthias, Perissinotto, Daniela, Perris, Roberto, Pettway, Zoé, Shinomura, Tamayuki   +11 more
core  

Proteoglycans in health and disease: novel regulatory signaling mechanisms evoked by the small leucine-rich proteoglycans. [PDF]

, 2010
The small leucine-rich proteoglycans (SLRPs) are involved in many aspects of mammalian biology, both in health and disease. They are now being recognized as key signaling molecules with an expanding repertoire of molecular interactions affecting not only
Iozzo, Renato V., Schaefer, Liliana
core   +2 more sources

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza, Roberto Giugliani, Debra S. Regier, Jeanine Jarnes   +3 more
wiley   +1 more source

Clinical Characteristics of a Patient with Mucopolysaccharidosis Type IVA (Morquio Syndrome)

Вопросы современной педиатрии, 2023
Mucopolysaccharidosis (MPS) type IVA (Morquio syndrome) is a hereditary lysosomal storage disease caused by deficiency of N-acetylglucosamine-6-sulfate sulfatase.
Nato D. Vashakmadze, Natalia V. Zhurkova, Ludmila K. Mikhaylova, Volha Ya. Smirnova, Grigorii V. Revunenkov   +4 more
doaj   +1 more source

Enzymatic Behavior of Condoliase in Porcine Nucleus Pulposus: Ex Vivo and In Vitro Assessment

JOR SPINE, Volume 8, Issue 4, December 2025.
Condoliase digested chondroitin sulfate locally, and did not digest the collagen fibers that form the supportive architecture of the nucleus pulposus. ABSTRACT Background Condoliase is a treatment for lumbar disc herniation. This enzyme exerts its medicinal effects by digesting chondroitin sulfate (CS), which is abundant in the nucleus pulposus ...
Ippei Watanabe, Ko Takeda, Taiichi Shirogane   +2 more
wiley   +1 more source

Intervertebral Disc Proteoglycans: Multifunctional Tissue Stabilizing and Instructional Cell Regulatory Proteins That Control Tissue Homeostasis

JOR SPINE, Volume 8, Issue 4, December 2025.
Matrix and cell‐associated proteoglycans are important tissue‐stabilizing, weight‐bearing, and tension‐resisting proteins in the intervertebral disc. Their glycosaminoglycan components have growth factor binding and cell‐instructive properties that allow cells to regulate tissue composition and function.
James Melrose
wiley   +1 more source