-
Aspartylglucosaminuria in the United States.
Aspartylglucosaminuria (AGU) was diagnosed in two unrelated males with progressive mental retardation, coarse facies and skeletal abnormalities. Until now, this disorder has been described in predominantly Finnish populations with only one previous case reported in the U.S. We conclude that AGU may be more common in non-Finnish populations than the number of reported cases would indicate and should be included in the differential diagnosis in patients with suspected lysosomal storage disorders regardless of their geographical or ethnic backgrounds.
PMID: 6883788 [PubMed - indexed for MEDLINE]
-
Cited by 4 PubMed Central articles
-
Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.
Park H, Vettese MB, Fensom AH, Fisher KJ, Aronson NN Jr.
Biochem J. 1993 Mar 15; 290 ( Pt 3):735-41.
[Biochem J. 1993]
-
Spectrum of mutations in aspartylglucosaminuria.
Ikonen E, Aula P, Grön K, Tollersrud O, Halila R, Manninen T, Syvänen AC, Peltonen L.
Proc Natl Acad Sci U S A. 1991 Dec 15; 88(24):11222-6.
[Proc Natl Acad Sci U S A. 1991]
-
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.
Ikonen E, Baumann M, Grön K, Syvänen AC, Enomaa N, Halila R, Aula P, Peltonen L.
EMBO J. 1991 Jan; 10(1):51-8.
[EMBO J. 1991]
- » See all...