Abstract
In 1969 we published a paper concerning the first family with hyper-argininemia1. Describe once again the discovery of this disease seemed interesting. The first patient with hyperargininemia, a girl, was treated by Dr. Terheggen for epilepsy. Later, when her sister was brought to him for treatment also of epilepsy, he considered the possibility of a metabolic disease. An examination of the urine was carried out in one of the best biochemical laboratories in Germany. The answer was that the found cystinuria was irrelevant in a neurological metabolic disease with epilepsy and thus of no further interest.
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© 1989 Plenum Press, New York
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Lowenthal, A., Marescau, B. (1989). Hyperargininemia. In: Mori, A., Cohen, B.D., Koide, H. (eds) Guanidines 2. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-0821-8_28
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DOI: https://doi.org/10.1007/978-1-4613-0821-8_28
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