Aspartylglucosaminuria in the United States

Stefan Hreidarsson; George H. Momas; David L. Valle; Roger E. Stevenson; Harold Taylor; Joseph McCarty; Steven B. Coker; William R. Green

doi:10.1111/j.1399-0004.1983.tb01977.x

Aspartylglucosaminuria in the United States

Stefan Hreidarsson, George H. Momas, David L. Valle, Roger E. Stevenson, Harold Taylor, Joseph McCarty, Steven B. Coker, William R. Green

Johns Hopkins Hospital

Research output: Contribution to journal › Article › peer-review

17 Scopus citations

Abstract

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 nowFinnish 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.

Original language	English (US)
Pages (from-to)	427-435
Number of pages	9
Journal	Clinical Genetics
Volume	23
Issue number	6
DOIs	https://doi.org/10.1111/j.1399-0004.1983.tb01977.x
State	Published - Jun 1983

Keywords

1–aspartamido‐β‐N‐acetylglucosamine amidohydrolase
Aspartylglucosaminuria
con‐junctival
non‐Finnish

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/j.1399-0004.1983.tb01977.x

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title = "Aspartylglucosaminuria in the United States",

abstract = "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 nowFinnish 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.",

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AU - Hreidarsson, Stefan

AU - Momas, George H.

AU - Valle, David L.

AU - Stevenson, Roger E.

AU - Taylor, Harold

AU - McCarty, Joseph

AU - Coker, Steven B.

AU - Green, William R.

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AB - 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 nowFinnish 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.

KW - 1–aspartamido‐β‐N‐acetylglucosamine amidohydrolase

KW - Aspartylglucosaminuria

KW - con‐junctival

KW - non‐Finnish

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Aspartylglucosaminuria in the United States

Abstract

Keywords

ASJC Scopus subject areas

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