Results 11 to 20 of about 1,965 (163)
The Complexity of Pain Management in Children Affected by Mucopolysaccharidoses
Case Reports in Pediatrics, 2017 Mucopolysaccharidoses (MPSs) are a group of rare, genetic lysosomal storage disorders. They are caused by deficiencies of the lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs).
Sabrina Congedi +4 more
doaj +2 more sources
A case of mucopolysaccharidoses type I with heart involvement during infancy
The Turkish Journal of Pediatrics, 1990 We report a case of mucopolysaccharidoses I with severe cardiac involvement, which was diagnosed on the basis of clinical and laboratory findings even though, symptoms begin to occur in mucopolysaccharidoses after the first year of life.
S Demirsoy +4 more
doaj +4 more sources
Assessment, pharmacological therapy and rehabilitation management of musculoskeletal pain in children with mucopolysaccharidoses: a scoping review [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Pain of musculoskeletal origin is very common in young patients affected by Mucopolysaccharidoses. This scoping review evaluates the evidence for assessment, pharmacological treatment and rehabilitation management for musculoskeletal pain of ...
R. Gnasso +6 more
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Epidemiology of mucopolysaccharidoses [PDF]
Molecular Genetics and Metabolism, 2017 The aim of this study was to obtain data about the epidemiology of the different types of mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births.
Shaukat A. Khan +11 more
openaire +6 more sources
Mucopolysaccharidoses -An Adventurous Anaesthetic Encounter
Indian Journal of Anaesthesia, 2008 Cases of Mucopolysaccharidoses (MPS), though rare, may pose many challenges for the anaesthesiologist. Maintaining the airway may be extremely difficult even in the most experienced hands.
Madhuri S Kurdi, S S Deshpande
doaj +1 more source
A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family
Molecular Genetics and Metabolism Reports, 2018 Mucopolysaccharidoses (MPS) type III also termed as Sanfillipo syndrome, involves defect in enzymes required for degradation of heparan sulphate. We report a clinical case of MPS-III later followed by genetic investigation for MPS-III genes SGSH, NAGLU ...
Jyotsna Singh +10 more
doaj +2 more sources
Brain Sciences, 2022 Mucopolysaccharidoses (MPSs) are a rare group of heterogeneous genetic and metabolic disorders, caused by loss of functions of several enzymes that are involved in glycosaminoglycan catabolism.
Roberta Costanzo +11 more
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Therapy for the mucopolysaccharidoses [PDF]
Rheumatology, 2011 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.
Vassili, Valayannopoulos +1 more
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Atypical corneal clouding in mucopolysaccharidoses
Oman Journal of Ophthalmology, 2023 The etiology for corneal clouding from the birth is varied and includes conditions such as sclerocornea, birth trauma, corneal ulcer, Peters anomaly, and rare causes like mucopolysaccharidoses (MPS).
Mary Stephen +3 more
doaj +1 more source
Airway, 2021 Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that often present with a difficult airway. The trachea is usually narrowed and flattened, making the choice of correct technique and endotracheal tube (ETT) size crucial ...
Pradeep Tiwari +2 more
doaj +1 more source