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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Aspartylglycosaminuria in Northern Norway in eight patients: clinical heterogeneity and variations with the diet.

Urinary excretion of aspartylglycosamines was investigated in eight patients by semiquantitative thin-layer chromatography, and bound glycosamines by a quantitative photometric method (Elson-Morgan reaction). Each patient showed a fairly constant level, relative to the creatinine, of aspartylglycosamines in urine. The least retarded patient, aged 31, excreted about 350 mg/g creatinine, one-third of that found in two severely retarded young patients, aged 4 and 7 years (1400 and 940 mg/g creatinine, respectively). Three days on a low-protein diet did not change the aspartylglycosamine excretion in the patient showing the highest excretion rate.[1]

References

  1. Aspartylglycosaminuria in Northern Norway in eight patients: clinical heterogeneity and variations with the diet. Borud, O., Strömme, J.H., Lie, S.O., Torp, K.H. J. Inherit. Metab. Dis. (1978) [Pubmed]
 
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