Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses
نویسندگان
چکیده
منابع مشابه
Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.
The design and conduct of clinical studies to evaluate the effects of novel therapies on central nervous system manifestations in children with neuronopathic mucopolysaccharidoses is challenging. Owing to the rarity of these disorders, multinational studies are often needed to recruit enough patients to provide meaningful data and statistical power. This can make the consistent collection of re...
متن کاملMusculoskeletal manifestations of mucopolysaccharidoses.
The mucopolysaccharidoses (MPSs) are a heterogeneous group of inherited metabolic disorders caused by enzyme deficiencies that lead to progressive lysosomal storage of glycosaminoglycans. Musculoskeletal manifestations are common across all forms of MPS and are often apparent early in the disease course. Diagnostic delays occur frequently in these patients, especially those with more attenuated...
متن کاملDiagnosis of the mucopolysaccharidoses.
The mucopolysaccharidoses (MPSs) often present a diagnostic challenge, particularly for patients who have more slowly progressive disease phenotypes, as early disease manifestations can be subtle or non-specific. However, certain types of bone and joint involvement should always prompt consideration of an MPS diagnosis, such as early joint involvement without classic inflammatory features or er...
متن کاملTherapy for the mucopolysaccharidoses.
Better understanding of disease pathophysiology, improved supportive care and availability of disease-specific treatments for some of the mucopolysaccharidosis (MPS) disorders have greatly improved the outlook for patients with MPS disorders. Optimal management of these multisystemic disorders involves a multidisciplinary team and regular, comprehensive follow-up. Enzyme replacement therapy (ER...
متن کاملCardiac manifestations of the mucopolysaccharidoses.
The cardiovascular manifestations of the mucopolysaccharidoses (MPS) have not been well characterized. We studied nine children with various forms of MPS, using noninvasive cardiac diagnostic techniques. The echocardiograms of two brothers with Type I H/S MPS showed slow mitral valve early diastolic closure velocities (MVEDC) (18, 29 mm/sec) consistent with mitral stenosis. Each had a soft open...
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ژورنال
عنوان ژورنال: Italian Journal of Pediatrics
سال: 2018
ISSN: 1824-7288
DOI: 10.1186/s13052-018-0561-2