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Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients
Clinica Chimica Acta, 2018__1. Letter to the editor__ In November 2011 a paper was published in the Clinica Chimica Acta by Ouesleti et al. entitled ‘Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients’. The researchers describe variants found in seven patients with a severe phenotype of Sanfilippo disease.
Deden, AC +7 more
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Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients
Clinica Chimica Acta, 2011Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild somatic disease. MPS III results from a deficiency in one of the four enzymes involved in the heparan sulfate degradation, with sulfamidase (SGSH), α-N ...
S, Ouesleti +9 more
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Glycosaminoglycan levels for newborn screening in MPS I, MPS II and MPS III
Tijdschrift voor Kindergeneeskunde, 2013INTRODUCTION Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders characterized by glycosaminoglycan accumulation and severe and progressive skeletal, cardiac and/or neurological disease. To date, disease modifying therapy is available for three of the MPSs and is being developed for the other types.
Jessica de Ruijter +5 more
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Index-MP and MP-index matrices
Journal of Mathematical Analysis and ApplicationszbMATH Open Web Interface contents unavailable due to conflicting licenses.
Mosić, Dijana +2 more
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