Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts

Author:

Aula P.,Autio S.,Raivio K.,N�nt� V.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Aula, P., Näntö, V., Laipio, M.-L., Autio, S.: Aspartylglucosaminuria; deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents. Clin. Genet. 4, 297?300 (1973)

2. Autio, S.: Aspartylglucosaminuria. Analysis of thirty-four patients. J. ment. Defic. Res., Monogr. Ser. 1, 1?93 (1972)

3. Hers, H. G.: The concept of inborn lysosomal disease. In: Lysosomes and storage diseases (ed. H. G. Hers, F. van Hoof), pp. 148?171. New York: Academic Press 1973

4. Jenner, F. A., Pollitt, R. J.: Large quantities of 2-acetamido-1-(? 1-L-aspartamido)-1,2-dideoxyglocose in the urine of mentally retarded siblings. Biochem. J. 103, 48?49 (1967)

5. Kaback, M. M., Leonard, C. O., Parmely, P. H.: Intrauterine diagnosis: Comparative enzymology of cells cultivated from maternal skin, fetal skin, and amniotic fluid cells. Pediat. Res. 5, 366?371 (1971)

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