نتایج جستجو برای: mucolipidosis

تعداد نتایج: 464  

Journal: :South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 1977
G S Gericke

Two Cape Coloured siblings with typical features of Hurler's syndrome, but without mucopolysacchariduria or mucopolysaccharide accumulation in tissues, are presented. The clinical features, in conjunction with raised beta-D-galactosidase and alpha-L-fucosidase levels in fibroblast cultures from one of the patients, suggest the diagnosis of a mucolipidosis. Theories relating to the intracellular...

Journal: :Journal of the Royal Society of Medicine 1999

Journal: :Journal of mucopolysaccharidosis and rare disease 2016

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