Ayşegül Tokath

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The mucopolysaccharidoses (MPSs) are a family of heritable disorders caused by deficiency of lysosomal enzymes needed to degrade glycosaminoglycans (GAGs). The undegraded or partially degraded GAGs are stored in lysosomes and/or excreted in urine. In our study, 118 patients seen over the past 20 years and suspected to have lysosomal storage disorders (LSDs)(More)
els whereas urinary lysine was increased. Hyperammonaemia was absent. Serum lactate dehydrogenaSe and ferritin were increased, as is usual in LPI. Treatment was aimed at the supply of citrulline. This neutral amino acid can be taken up in the cell normally, in contrast to ornithine and arginine. During the following months this treatment was successful as(More)
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