Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning.
genetic conditions
References
Aronson NN Jr. Aspartylglycosaminuria: biochemistry and molecular biology.Biochim Biophys Acta. 1999 Oct 8;1455(2-3):139-54. Review.
Arvio MA, Peippo MM, Arvio PJ, Kääriäinen HA. Dysmorphic facial features inaspartylglucosaminuria patients and carriers. Clin Dysmorphol. 2004Jan;13(1):11-5.
Saarela J, Laine M, Oinonen C, von Schantz C, Jalanko A, Rouvinen J, Peltonen L. Molecular pathogenesis of a disease: structural consequences ofaspartylglucosaminuria mutations. Hum Mol Genet. 2001 Apr 15;10(9):983-95.
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