Primary hyperoxaluria type 1 (PH1) is an autosomal recessive, inherited disorder of glyoxylate metabolism arising from a deficiency of the alanine:glyoxylate aminotransferase (AGT) enzyme, encoded by the AGXT gene. The disease is manifested by excessive endogenous oxalate production, which leads to
โฆ LIBER โฆ
Clinical implications of mutation analysis in primary hyperoxaluria type 1
โ Scribed by VAN WOERDEN, CHRISTIAAN S; GROOTHOFF, JAAP W; WIJBURG, FRITS A; ANNINK, CARLA; WANDERS, RONALD J A; WATERHAM, HANS R
- Book ID
- 109066532
- Publisher
- Nature Publishing Group
- Year
- 2004
- Tongue
- English
- Weight
- 81 KB
- Volume
- 66
- Category
- Article
- ISSN
- 0085-2538
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