Results 91 to 100 of about 335,224 (186)

Versatile and Efficient Protein Association Through Chemically Modified Sphingomyelin Nanosystems (SNs) for Enhanced Delivery

ChemBioChem, Volume 25, Issue 23, December 2, 2024.
Graphic representation of the work carried out in this research, the main objective of which was the development of a nanoplatform for the efficient delivery of proteins (Protein Sphingomyelin Nanosystems; P‐SNs), regardless of their molecular weight (MW), net charge, or isoelectric point (pI).
Marcelina Abal‐Sanisidro, Olaia Nieto‐García, Cristina Cotelo‐Costoya, María de la Fuente   +3 more
wiley   +1 more source

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

Morquio Syndrome from a Dentist's aspect

, 2022
Morquio syndrome is a rare autosomal recessive inherited disease of lysosomal storage defect associated with multiorgan involvement and symptoms are seen due to excessive accumulation of Glucose-aminoglycans in the affected sites. Its characteristic features are extremely abnormal gait, short stature, short neck, and macrocephaly which can be ...
openaire   +1 more source

Aortic Valve Replacement in a Patient with Morquio Syndrome

The Heart Surgery Forum, 2008
Cardiac involvement in Morquio syndrome, mucopolysaccharidosis IV, is characterized by aortic and mitral valve thickening and infiltration of the coronary arteries. There are few reports concerning surgical interventions in patients with mucopolysaccharidoses.
NICOLINI, Francesco, CORRADI, Domenico, GHERLI, Tiziano, BOSIO S   +3 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

Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey

Orphanet Journal of Rare Diseases, 2014
BackgroundMorquio A syndrome (or mucopolysaccharidosis IVa) is an ultra-rare multi-organ disease, resulting in significantly impaired functional capacity, mobility and quality of life (QoL).MethodsThis patient-reported outcomes survey evaluated the ...
C. Hendriksz, C. Lavery, M. Çoker, S. K. Uçar, Mohit J. Jain, L. Bell, C. Lampe   +6 more
semanticscholar   +1 more source

A Case Report of Cardiac Ascites in Morquio Syndrome Complicated by Pulmonary Hypertension

Annals of Internal Medicine: Clinical Cases
Morquio syndrome, or mucopolysaccharidosis type IV (MPS IV), is a rare lysosomal storage disorder characterized by skeletal dysplasia and dysostosis multiplex.
Gauri Patel, Olakanmi Joseph Deleawe
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

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  

Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview study

JIMD Reports, Volume 65, Issue 2, Page 63-84, March 2024.
Abstract Canadian patients and families affected by rare genetic lysosomal storage diseases (LSDs) suffer from numerous challenges related to disease management, including issues navigating healthcare and social support services, access to orphan drugs, and intensive treatment regimens.
Nahya Awada, Martin Holcik
wiley   +1 more source