Results 71 to 80 of about 4,093 (193)

Morquio Disease : A Case Report

Journal of Chittagong Medical College Teachers' Association, 2014
Mucopolysaccharidoses (MPS) are hereditary progressive metabolic disorder caused by the absence or malfunctioning of lysosomal enzyme needed to breakdown molecule called glycosaminoglycan (GAGS) [1]. The major GAGS are chondrotin 4 sulfate, heparin sulfate, dermaten sulfate and hyaluranan.
Pranab Kumar Chowdhury, Dhiman Chowdhury, Mohammed Rezaul Karim, Sankar Kumar Gosh   +3 more
openaire   +1 more source

Calculation of continuous reference intervals for biological parameters exhibiting strong age‐dependent level changes: Its application to glycosaminoglycans and sialic acid in urine

JIMD Reports, Volume 65, Issue 6, Page 442-449, November 2024.
Abstract Glycosaminoglycan (GAG) and sialic acid (total and free) assays are used as first‐line screening tests for the diagnosis of mucopolysaccharidoses and glycoproteinoses, respectively. There is a pronounced age‐dependent variation in the urinary concentrations of these metabolites in the normal population, and the stratification of the reference ...
Carlos Emilio Rodríguez, Mette Diswall, Anders Olsson, Torleif Jonsson, Eva Johansson, Maria Blomqvist   +5 more
wiley   +1 more source

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  

Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population. [PDF]

, 2019
Mucopolysaccharidosis (MPS) VII is an ultra-rare, progressively debilitating, life-threatening lysosomal disease caused by deficiency of the enzyme, β-glucuronidase. Vestronidase alfa is an approved enzyme replacement therapy for MPS VII. UX003-CL301 was
Bauer, Mislen, Chen, Chao-Yin, Cimms, Tricia, Haller, Christine, Harmatz, Paul, Song, Wenjie, Wang, Raymond Y, Whitley, Chester B   +7 more
core   +1 more source

Fluorescent Reporters, Imaging, and Artificial Intelligence Toolkits to Monitor and Quantify Autophagy, Heterophagy, and Lysosomal Trafficking Fluxes

Traffic, Volume 25, Issue 10, October 2024.
Our review reports on qualitative, quantitative, and chronological monitoring of lysosomal protein trafficking, and of autophagic and heterophagic fluxes to acidic, degradative endolysosomes. We provide an up‐to‐date description of available single‐ and tandem‐fluorescent reporters, mono‐ and multi‐modal microscopy techniques, and artificial ...
Mikhail Rudinskiy, Diego Morone, Maurizio Molinari   +2 more
wiley   +1 more source

Morquios Syndrome: A Rare Case Report

Journal of Indian Academy of Oral Medicine and Radiology, 2013
Morquio’s syndrome is an autosomal recessive disorder caused by deficiency of N-acetylgalactosamine-6-sulfate. It was first described in 1929 by Morquio and Brailsford. Morquio’s syndrome is characterized by a defect in the degradation of keratin sulfate resulting in the accumulation of mucopolysaccharides.
Vidya Sagar Mopagar, Mithesh D Kathariya, T Umapathy, T Premkishore, Chandrashekar, Ashish Raurale   +5 more
openaire   +2 more sources

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date

American Journal of Medical Genetics Part A, Volume 194, Issue 9, September 2024.
Abstract Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in the United States (December 2019–April 2022).
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K. White, Heather M. McLaughlin, Guillermo Seratti   +13 more
wiley   +1 more source

Staphylococcal enterotoxin B influences the DNA methylation pattern in nasal polyp tissue : a preliminary study [PDF]

, 2013
Staphylococcal enterotoxins may influence the pro-inflammatory pattern of chronic sinus diseases via epigenetic events. This work intended to investigate the potential of staphylococcal enterotoxin B (SEB) to induce changes in the DNA methylation pattern.
Bachert, Claus, De Meyer, Tim, Denil, Simon, Perez Novo, Claudina, Trooskens, Geert, Van Cauwenberge, Paul, Van Criekinge, Wim, Zhang, Luo, Zhang, Yuan   +8 more
core   +2 more sources

Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series

Orphanet Journal of Rare Diseases, 2021
Background This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records.
Sebile Kılavuz, Sibel Basaran, Deniz Kor, Fatma Derya Bulut, Sevcan Erdem, Hüseyin Tuğsan Ballı, Muhammed Dağkıran, Atil Bisgin, Halise Neslihan Önenli Mungan   +8 more
doaj   +1 more source

Pain management challenges in a patient with mucopolysaccharidosis IVA

Clinical Case Reports, Volume 12, Issue 8, August 2024.
Key Clinical Message It is important to consider all potential pain management modalities including alternative treatment on managing complex pain presentations. Acupuncture is a treatment modality that may result in reduction of pain in patients with significant medical comorbidities due to MPS IVA.
Marcus Gurgius, Sarah Donoghue, Robyn A. Wallace   +2 more
wiley   +1 more source