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Pediatric Nephrology
Published in: Pediatric Nephrology 5/2003

01-05-2003 | Letter to the Editors

Genetic analysis: a diagnostic tool for primary hyperoxaluria type 1

Authors: Christian von Schnakenburg, Gill Rumsby, Bernd Hoppe, Kay Latta, Markus Kemper

Published in: Pediatric Nephrology | Issue 5/2003

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Excerpt

Sirs, …
Literature
1.
Acker KJ van, Eyskens FJ, Espeel MF, Wanders RJA, Dekker C, Kerckaert IO, Roels F (1996) Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect. A novel type of primary hyperoxaluria. Kidney Int 50:1747–1752PubMed
2.
Monico CG, Persson M, Ford GC, Rumsby G, Milliner DS(2002) Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria type I or II. Kidney Int 62:392–400CrossRefPubMed
3.
Rumsby G, Sharma A, Cregeen DP, Solomon LR (2001) Primary hyperoxaluria type 2 without l-glycericaciduria: is the disease underdiagnosed. Nephrol Dial Transplant 16:1697–1699PubMed
4.
Rumsby G (2000) Biochemical and genetic diagnosis of the primary hyperoxalurias: a review. Mol Urol 4:349–353PubMed
5.
Schnakenburg C von, Rumsby G (1997) Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. J Med Genet 34:489–492PubMed
6.
Schnakenburg C von, Weir T, Rumsby G (1997) Linkage of microsatellites to the AGXT gene on chromosome 2q37.3 and their role in prenatal diagnosis of primary hyperoxaluria type 1. Ann Hum Genet 61:365–368CrossRefPubMed
7.
Purdue PE, Takada Y, Danpure CJ (1990) Identification of mutations associated with peroxisome to mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. J Cell Biol 111:2341–2351PubMed
Metadata
Title
Genetic analysis: a diagnostic tool for primary hyperoxaluria type 1
Authors
Christian von Schnakenburg
Gill Rumsby
Bernd Hoppe
Kay Latta
Markus Kemper
Publication date
01-05-2003
Publisher
Springer-Verlag
Published in
Pediatric Nephrology / Issue 5/2003
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-003-1107-3

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