Literature DB >> 12687460

Genetic analysis: a diagnostic tool for primary hyperoxaluria type 1.

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

Abstract

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Year:  2003        PMID： 12687460     DOI： 10.1007/s00467-003-1107-3

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  7 in total

1.  Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed?

Authors:  G Rumsby; A Sharma; D P Cregeen; L R Solomon
Journal:  Nephrol Dial Transplant       Date:  2001-08       Impact factor: 5.992

2.  Biochemical and genetic diagnosis of the primary hyperoxalurias: a review.

Authors:  G Rumsby
Journal:  Mol Urol       Date:  2000

3.  Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.

Authors:  C von Schnakenburg; G Rumsby
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

4.  Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: a novel type of primary hyperoxaluria.

Authors:  K J Van Acker; F J Eyskens; M F Espeel; R J Wanders; C Dekker; I O Kerckaert; F Roels
Journal:  Kidney Int       Date:  1996-11       Impact factor: 10.612

5.  Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.

Authors:  P E Purdue; Y Takada; C J Danpure
Journal:  J Cell Biol       Date:  1990-12       Impact factor: 10.539

6.  Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II.

Authors:  Carla G Monico; Mai Persson; G Charles Ford; Gill Rumsby; Dawn S Milliner
Journal:  Kidney Int       Date:  2002-08       Impact factor: 10.612

7.  Linkage of microsatellites to the AGXT gene on chromosome 2q37.3 and their role in prenatal diagnosis of primary hyperoxaluria type 1.

Authors:  C von Schnakenburg; T Weir; G Rumsby
Journal:  Ann Hum Genet       Date:  1997-07       Impact factor: 1.670
  7 in total
  2 in total

Review 1.  Primary hyperoxaluria type 1: is genotyping clinically helpful?

Authors:  Ernst Leumann; Bernd Hoppe
Journal:  Pediatr Nephrol       Date:  2005-03-17       Impact factor: 3.714

Review 2.  Diagnosis and metaphylaxis of stone disease. Consensus concept of the National Working Committee on Stone Disease for the upcoming German Urolithiasis Guideline.

Authors:  M Straub; W L Strohmaier; W Berg; B Beck; B Hoppe; N Laube; S Lahme; M Schmidt; A Hesse; K U Koehrmann
Journal:  World J Urol       Date:  2005-11-29       Impact factor: 4.226
  2 in total

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