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1: Clin Genet. 1983 Jun;23(6):427-35.Links

Aspartylglucosaminuria in the United States.

Hreidarsson S, Thomas GH, Valle DL, Stevenson RE, Taylor H, McCarty J, Coker SB, Green WR.

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]

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