Results 91 to 100 of about 7,143 (200)

Genotype–Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights

Clinical &Experimental Ophthalmology, Volume 53, Issue 3, Page 232-245, April 2025.
ABSTRACT Corneal dystrophies are a group of predominantly rare inherited disorders. They are by definition bilateral, relatively symmetrical, and without systemic involvement, affecting corneal transparency and/or refraction. Traditional classification of corneal dystrophies is based on slit‐lamp appearance, affected corneal layer and histological ...
Petra Liskova, Pavlina Skalicka, Lubica Dudakova, Andrea L. Vincent   +3 more
wiley   +1 more source

Modulation of expression of genes involved in glycosaminoglycan metabolism and lysosome biogenesis by flavonoids [PDF]

, 2015
Flavonoids were found previously to modulate efficiency of synthesis of glycosaminoglycans (GAGs), compounds which are accumulated in cells of patients suffering from mucopolysaccharidoses (MPSs).
Banecki, Bogdan, Gabig-Cimińska, Magdalena, Jakóbkiewicz-Banecka, Joanna, Kloska, Anna, Malinowska, Marcelina, Moskot, Marta, Mozolewski, Paweł, Rychłowski, Michał, Smolińska, Elwira, Węgrzyn, Grzegorz   +9 more
core   +1 more source

Eruptive syringoma in a case of mucopolysaccharidosis type IIIB-Sanfilippo B

Indian Journal of Paediatric Dermatology
Eruptive syringoma is a rare clinical variant of syringomas and is commonly described in the setting of Down's syndrome. Hereby, we report the case of a 22-year-old female presenting with multiple, small, skin-yellow-hyperpigmented, round-ovoid papules ...
Arthi Rajendran, Divya Raviprakash, Anuradha Priyadarshini, S Adikrishnan   +3 more
doaj   +1 more source

Anaesthesia and airway management in mucopolysaccharidosis [PDF]

, 2013
This paper provides a detailed overview and dis-cussion of anaesthesia in patients with mucopolysacchari-dosis (MPS), the evaluation of risk factors in these patients and their anaesthetic management, including emergency airway issues.
A Hirth, A John, AM Martins, AM McLaughlin, AM Rovelli, AO Ransford, AR Alpöz, Barbara Valdemarsson, C Moores, CF Wippermann, CJ Pelley, CM Myer III, E Dilber, EA Braunlin, EA Braunlin, Elizabeth A. Braunlin, G Miller, GL Semenza, GN Leal, Guirish A. Solanki, Henrik Hack, HS Jeong, HS Sims, I Misumi, Iain A. Bruce, J Muenzer, JA Thorne, JE Wraith, JH Dangel, K Kirkpatrick, KG Belani, Kumar G. Belani, L Broek Van den, LA Fleisher, MA Simmons, MC Theroux, MS Kurdi, MS Muhlebach, NJ Mendelsohn, P Arn, P Arn, Paul R. Harmatz, PJ Orchard, PM Ingelmo, PP Walker, R Giugliani, R Nagano, R Rowe, Richard Rowe, RO Bonow, Robert Walker, RWM Walker, RWM Walker, RWM Walker, SD Murgu, SEJ Leighton, Simon Jones, SL Shih, SM Wold, T Hishitani, TR Kimball, U Linstedt, UR Mohan, V Fesslová, V Tandon, V Valayannopoulos, W Kamin, WJ Buhain   +67 more
core   +4 more sources

Determinación de hexosamines en orina por HPLC para el diagnóstico de mucopolisacariosis tipo III [PDF]

, 2014
Treballs Finals de Grau de Química, Facultat de Química, Universitat de Barcelona, Any: 2014, Tutors: Dra. Elisabet Fuguet Jordà i Dr. Rafael Artuch IriberriIn the present work a reported analytical method was optimized in order to improve the ...
Zamora Campos, Nelson
core  

Clonal karyotype evolution involving ring chromosome 1 with myelodysplastic syndrome subtype RAEB-t progressing into acute leukemia [PDF]

, 2006
s Karyotypic evolution is a well-known phenomenon in patients with malignant hernatological disorders during disease progression. We describe a 50-year-old male patient who had originally presented with pancytopenia in October 1992.
Bennett JM, Bettina Wunderlich, Brigitte Poleck-Dehlin, Chen Z, Christoph Schmid, Cutler CS, De Witte T, Depil S, Georg Ledderose, Gisselsson D, Gullingsrud EO, Hans Jochen Kolb, Hebart H, Helga Schmetzer, Hoffmann WK, Hoffmeister PA, Holler E, Johann Mittermüller, Johansson B, Jotterand M, Kern W, Kolb HJ, Kolb HJ, Massenkeil G, Mattano, Mhawesch P, Mittermuller J, Moss PA, Mufti GJ, Rothe G, Sanders JE, Schmetzer H, Schmetzer H, Schmetzer HM, Schmid C, Seabright M, Seber A, Slovak ML, Sole F, Sole F, Thomas Duell, Tichelli A, Tichelli A, van Esser JW, Xu J, Yan J, Yoshida A   +46 more
core   +1 more source

Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Among genetic disorders of vesicular trafficking, there are three causing recurrent acute liver failure (RALF): NBAS, RINT1, and SCYL1‐associated disease. These three disorders are characterized by liver crises triggered by febrile infections and account for a relevant proportion of RALF causes. While the frequency and severity of liver crises
Bianca Peters, Tal Dattner, Lea D. Schlieben, Tian Sun, Christian Staufner, Dominic Lenz   +5 more
wiley   +1 more source

Structure and functions of Glycosaminoglycans: a short review (with some personal scientific contributions)

Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, 2020
This present article wishes to underline the strong contribution to both structure and functions of living bodies of a group of acidic polysaccharides, the Glycosaminoglycans (GAGs), usually covalently linked to proteins to give Proteoglycans (PGs): GAGs
Alberto Calatroni
doaj   +1 more source

Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS [PDF]

, 2014
Background - Children with mucopolysaccharidoses (MPS) often have musculoskeletal (MSK) abnormalities. Paediatric Gait, Arms, Legs, and Spine (pGALS), is a simple MSK assessment validated in school-age children to detect abnormal joints.
Chan, Mercedes, Foster, Helen, Hardy, Elizabeth, Hensman, Pauline, Jones, Simon, Rapley, Timothy, Sen, Ethan, Wraith, Edmond   +7 more
core   +2 more sources

Respiratory and sleep disorders in mucopolysaccharidosis [PDF]

, 2012
MPS encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans (GAG) in organs and tissues.
Ciarán McArdle, David M. Rapoport, Karen A. Hardy, Kenneth I. Berger, Kuo Sheng Lee, Martin J. Tobin, Maurizio Scarpa, Roberto Giugliani, Simone C. Fagondes, Susan A. Ward   +9 more
core   +1 more source