نتایج جستجو برای: mucopolysaccharidosis
تعداد نتایج: 2370 فیلتر نتایج به سال:
_______________________________ 155 Introduction ______________________________ 155 Observations _______________________________ 155 Comparison with 1968 slippage __________________ 157 Similarities ______________________________ 157 Differences ________________________________ 157 Discussion ________________________________ 157 Acknowledgments -_________________________^_ 159 References cited ...
A simple method is described for measurement of urinary glycosaminoglycans (GAG) in normal and pathological urine: a fixed fraction of the 24-h urine is passed over a small plug of ECTEOLA-modified cellulose and the GAG are eluted with a few milliliters of NaCI solution (3 mol/liter) and measured as hexuronic acid. Because results are compared for equal aliquots of complete 24-h urines, GAG are...
A 2-year-old boy presented with delayed motor skills and language since birth. Family history disclosed consanguineous parents. Examination showed global muscular hypotonia, optic atrophy, oculomotor apraxia, and normal head circumference. Brain MRI showed optic atrophy and macrocerebellum (figure). Laboratory tests revealed deficient activity of a-L-iduronidase in peripheral blood leukocytes a...
INTRODUCTION We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding. The purpose of presenting this case is to highlight the distinctive manifestation of mucopolysaccharidosis type II (Hunter syndrome). CASE PRESENTATION A 10-year-old East Asian boy presented with abdominal distension of fiv...
BACKGROUND Airway management for patients with craniofacial abnormalities poses many challenges. It potentially has a high rate of morbidity and even mortality. METHODS We reviewed our experience in administering anesthesia to patients with a diagnosis of mucopolysaccharidosis or Pierre Robin sequence in the past 10 years (July 1998 to October 2008). The anesthetic procedures, methods of airw...
We have characterized a new mutant mouse that has virtually no /-glucuronidase activity. This biochemical defect causes a murine lysosomal storage disease that has many interesting similarities to human mucopolysaccharidosis type VII (MPS VII; Sly syndrome; fl-glucuronidase deficiency). Genetic analysis showed that the mutation is inherited as an autosomal recessive that maps to the fl-glucuron...
A rat colony with mucopolysaccharidosis VI was established and the clinical, pathological, and biochemical features were characterized. Affected rats had facial dysmorphia, dysostosis multiplex, and increased urinary excretion of glucosaminoglycans (GAGs). Ultrastructural studies revealed storage of GAGs throughout the reticuloendothelial cells, cartilage, and other connective tissues, but no d...
Mutational analysis of the IDUA gene was performed in a cohort of 102 European patients with mucopolysaccharidosis type I. A total of 54 distinct mutant IDUA alleles were identified, 34 of which were novel including 12 missense mutations, 2 nonsense mutations, 12 splicing mutations, 5 micro-deletions, 1 micro-duplication 1 translational initiation site mutation, and 1 'no-stop' change (p.X654Re...
Mucopolysaccharidosis type IIIC (MPSIIIC) is a rare subtype of mucopolysaccharidosis disorder family caused by mutations in heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. MPSIIIC is subdivided into four subtypes which have overlapping features, and are indistinguishable at clinical level. In populations with high consanguineous marriage rate, homozygosity mapping can be a good c...
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