clinical presentation of mucopolysaccharidoses
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منابع مشابه
Mucopolysaccharidoses: anesthetic considerations and clinical manifestations.
Mucopolysaccharidosis (MPS) is a group of genetic disorders that presents challenges during anesthetic care and in particular difficulty with airway management. Patients should be managed by experienced anesthesiologists at centers that are familiar with these types of conditions. Rarely encountered disease states have been identified as important topics in the continuing education of clinical ...
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متن کاملClinical and laboratorial study of 19 cases of mucopolysaccharidoses.
UNLABELLED The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in ...
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Out of five thousand cases of mental retardation investigated over a period often years in NIMHANS, 80 cases were suspected to be cases of mucopolysaccharidoses. Out of these, 58 cases were confirmed as mucopolysaccharidoses after biochemical and radiological investigations. The different types of mucopolysaccharidoses were 40 cases of Hurler's, 14 of Hunter's and 4 of Morquio's syndrome. The s...
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عنوان ژورنال:
genetics in the 3rd millenniumجلد ۴، شماره ۱، صفحات ۷۲۳-۷۲۷
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