PReS-FINAL-2244: Ultrasound examination reveals typical alterations in joints of mucopolysaccharidosis (MPS) patients
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چکیده
منابع مشابه
PReS-FINAL-2244: Ultrasound examination reveals typical alterations in joints of mucopolysaccharidosis (MPS) patients
Introduction Mucopolysaccharidoses (MPS) are a group of metabolic disorders caused by the absence or inadequate functioning of enzymes needed to break down glycosaminoglycans (GAG), which are essential structural elements of many tissues in the human body (bone, cartilage, cornea, skin, connective tissue). One of the main features of several of the mucopolysaccharidoses is bone damage and remod...
متن کاملImmunological evaluation of patients with mucopolysaccharidosis (MPS)
Background MPS is a group of metabolic diseases caused by deficiency of lysosomal enzymes that degrade glycosaminoglycans (GAG). Recurrent respiratory infections, sleep disturbances, upper and lower airway obstruction are frequently reported in MPS’ patients. However, cellular accumulation of GAG fragments leading to progressive multi-system manifestations can clutter homeostasis also modify th...
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Introduction Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare genetic disease with excessive proliferation of skin and bone at the distal parts of extremities. Features include clubbing of the digits, periostitis of the long bones, hydrarthrosis, facial skin thickening and coarse facial features. It mostly affects males and has a bimodal peak of onset:...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s2-p234