نتایج جستجو برای: mucopolysaccharidosis 1
تعداد نتایج: 2754438 فیلتر نتایج به سال:
how to cite this article: alaee mr. mucopolysaccharidosis type 1. iran j child neurol autumn 2012; 6:4(suppl. 1):5. pls see pdf.
Background: Mucopolysaccharidosis type III (MPS III) is the of mucopolysaccharidosis that has fewer systemic signs and symptoms, however, it most severe neurological impairment. There are four types MPS III, determined by mutation in gene responsible for enzyme becomes deficient degrading intracellular glycosaminoglycan, which clinical picture.
INTRODUCTION Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG). The incidence of mucopolysaccharidosis is 1/25,000, with autosomal recessive inheritance (except for MPS II). Mucopolysaccharidosis occurs in seven different types, each with a different congenital deficie...
how to cite this article: imanzadeh f. gastrointestinal symptoms in lysosmal disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):17-18. pls see pdf. references: 1. semenza gl, pyeritz re. respiratory complications of mucopolysaccharide storage disorders. medicine (baltimore) 1988; 67:209. 2. wraith je, scarpa m, beck m, et al. mucopolysaccharidosis type ii (hunter syn...
Mucopolysaccharidosis type maroteaux-lamy is a very rare hereditary disease. The disease is marked by the deficiency of the lysosomal enzyme N-Acetyl galactosamine-a-4-sulfate sulfatase (arylsulfatase B). It is inherited as an autosomal recessive trait. The most clinical manifestations are: corneal clouding, organomegaly, hernias, coarse facial features, cardiac insufficiency and skeletal abn...
OBJECTIVES To characterize the stomatognathic system and stomatognathic functions in patients with mucopolysaccharidosis. METHODS Cross-sectional and observational study of patients with mucopolysaccharidosis seen at the outpatient clinic at the Medical Genetics Service of Hospital de Clínicas de Porto Alegre. The inclusion criteria were the existence of a biochemical or molecular diagnosis o...
Severity score system for progressive myelopathy: development and validation of a new clinical scale
Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for degenerative vertebral diseases. Our objective is to propose and validate a new scale addressing progressive myelopathies and to present validating data fo...
Mucopolysaccharidosis VI is an autosomal recessive lysosomal storage disorder associated with severe disability and premature death. The presence of a mucopolysaccharidosis-like disease in indigenous ethnic groups in Colombia can be inferred from archaeological findings. There are several indigenous patients with mucopolysaccharidosis VI currently receiving enzyme replacement therapy. We discus...
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive disorder characterized by a deficiency of the enzyme iduronate-2-sulfatase leading to a multisystem involvement by tissue accumulation of glycosaminoglycans heparan and dermatan sulfate. We report a case of a 9-year-old boy diagnosed with mucopolysaccharidosis type II at 4 years of age, classified as severe variant. He presented ne...
OBJECTIVE Mucopolysaccharidosis types IIIA through IIID (Sanfilippo syndrome) are caused by deficiencies of enzymes involved in the degradation of heparan sulfate. The onset and severity of the disease are highly variable. The purpose of this study was to describe the natural course of mucopolysaccharidosis type IIIA in a large cohort of patients. PATIENTS AND METHODS The natural course of mu...
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