Results 91 to 100 of about 335,217 (205)
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 +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 +3 more
openaire +2 more sources
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 +13 more
wiley +1 more source
Morquio A Syndrome Case Report and Literature Review
Scholars Journal of Medical Case Reports, 2023 Morquio A syndrome is an autosomal recessive disorder, one of 50 lysosomal storage diseases (LSDs), and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Deficiency of this enzyme causes specific glycosaminoglycan (GAG) accumulation: keratan sulfate (KS) and chondroitin-6-sulfate (C6S).
Jaouaher M +4 more
openaire +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 +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
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
Roentgenographic diagnosis of mucopolysaccharidosis with particular reference to Morquio syndrome
South African Journal of Radiology, 2012 Mucopolysaccharidosis (MPS) comprises a group of conditions associated with an abnormality in glycoprotein or mucopolysaccharides metabolism. Types of MPS identified are MPS I-H (Hurler's syndrome, gargoylism), MPS II (Hunter's syndrome), MPS III ...
umesh chandra parashari +3 more
doaj +1 more source
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 +8 more
doaj +1 more source