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- W2340234295 abstract "We present in this paper a patient with a clinically intermediate form of mucolipidosis (ML). Lysosomal hydro- lase activity in fibroblasts was normal and levels of these en- zymes in culture media were not elevated. There was a strik- ing elevation of several hydrolases in serum and a deficiency (15% of normal) of N-acetyl-glucosamine phosphotransferase in fibroblasts. Atypical electron microscopic findings were also observed. There was no evidence of increased synthesis, slower turnover, unbalanced distribution or further changes in lysosomal enzymes. Phosphotransferase deficiency against en- dogenous g-glucosaminidase and the fact that the electropho- retic mobility of lysosomal enzymes was identical to that of MLII suggest that these enzymes are not phosphorylated. Hypotheses that could explain this atypical pathology are dis-" @default.
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- W2340234295 date "1988-01-01" @default.
- W2340234295 modified "2023-09-28" @default.
- W2340234295 title "II. Clinical, biochemical and pathological investigations" @default.
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