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Antenatal diagnosis of maple syrup urine disease

✍ Scribed by Hoo, J. J. ;Latta, E. ;Schauml�ffel, E.

Publisher
Springer-Verlag
Year
1974
Weight
239 KB
Volume
118
Category
Article
ISSN
0044-2917

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✦ Synopsis

Antenatal diagnosis of MSUD was carried out in a family with 2 known MSUD cases. By means of a relatively simple method we were able to show that the enzyme activity of the cultivated amnion cells (female karyotype) was not lower than the activities of the control cells. The birth of a healthy girl confirmed our result.

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