نتایج جستجو برای: mucopolysaccharidosis 1
تعداد نتایج: 2754438 فیلتر نتایج به سال:
Sulphated N-acetylhexosamines have been isolated from human urine and tentatively identified as N-acetylglucosamine 6-sulphate (GlcNAc6S), N-acetylgalactosamine 6-sulphate (GalNAc6S), N-acetylgalactosamine 4-sulphate (GalNAc4S) and N-acetylgalactosamine 4,6-disulphate (GalNAc4,6diS). Urine from mucopolysaccharidosis-Type-IIID, -IVA and -VI patients compared with that from normal individuals con...
Spots for Screening of Mucopolysaccharidosis I in Newborns, Ding Wang, Bhramara Eadala, Martin Sadilek, Nestor A. Chamoles, Frantisek Turecek, C. Ronald Scott, and Michael H. Gelb (Departments of 1 Chemistry, 3 Pediatrics, and 4 Biochemistry, University of Washington, Seattle, WA; 2 Laboratory of Neurochemistry, Buenos Aires, Argentina; * address correspondence to this author at: Departments of...
The ERNDIM Urine Mucopolysaccharide scheme is aiming at (1) provision of urine samples obtained from confirmed MPS patients to enable laboratories to gain or maintain experience to identify MPS patients and (2) proficiency testing of laboratories providing urine screening of mucopolysaccharidosis. The scheme is organised by Erasmus Medical Centre (Rotterdam, NL) in conjunction with SKML, the Du...
BACKGROUND Mucopolysaccharidosis (MPS) diseases lead to a profound disruption in normal mechanisms of growth and development. This study was undertaken to determine the general growth of children with MPS I and II. METHODS The anthropometric data of patients with MPS I and II (n=76) were retrospectively analyzed. The growth patterns of these patients were analyzed and then plotted onto Polish...
BACKGROUND Mucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal storage disorder for which there is currently no effective therapy. Though numerous potential therapies are in development, there are several challenges to conducting clinical research in this area. We seek to make recommendations on the approach to clinical research in MPS III, including the selection of ou...
Severe progressive neurological paediatric disease mucopolysaccharidosis III type C is caused by mutations in the HGSNAT gene leading to deficiency of acetyl-CoA: α-glucosaminide N-acetyltransferase involved in the lysosomal catabolism of heparan sulphate. To understand the pathophysiology of the disease we generated a mouse model of mucopolysaccharidosis III type C by germline inactivation of ...
Cellular transplantation in the form of bone marrow has been one of the primary treatments of many lysosomal storage diseases (LSDs). Although bone marrow transplantation can help central nervous system manifestations in some cases, it has little impact in many LSD patients. Canine models of neurogenetic LSDs provide the opportunity for modeling central nervous system transplantation strategies...
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