Primary hyperoxaluria, type I

Known as: Peroxisomal alanine glyoxylate aminotransferase deficiency, SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY, Alanine-glyoxylate aminotransferase deficiency 
Recessively inherited primary hyperoxaluria due to alanine-glyoxylate aminotransferase (AGXT) deficiency.(NICHD)
National Institutes of Health

Papers overview

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Review
2006
Review
2006
Primary hyperoxaluria type 1, the most common form of primary hyperoxaluria, is an autosomal recessive disorder caused by a… (More)
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Highly Cited
2006
Highly Cited
2006
Primary hyperoxaluria is characterized by severe urolithiasis, nephrocalcinosis, and early renal failure. As treatment options… (More)
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Highly Cited
2003
Highly Cited
2003
On the histone H3 tail, Lys 9 and Lys 27 are both methylation sites associated with epigenetic repression, and reside within a… (More)
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Highly Cited
2002
Highly Cited
2002
Posttranslational modification of histones has emerged as a key regulatory signal in eukaryotic gene expression. Recent genetic… (More)
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Highly Cited
2002
Highly Cited
2002
Su(var)3-9 is a dominant modifier of heterochromatin-induced gene silencing. Like its mammalian and Schizosaccharomyces pombe… (More)
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Highly Cited
2001
Highly Cited
2001
In eukaryotic cells the histone methylase SUV39H1 and the methyl-lysine binding protein HP1 functionally interact to repress… (More)
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Review
2000
Review
2000
HP1 was first described in Drosophila as a heterochromatin-associated protein with dosage-dependent effects on heterochromatin… (More)
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Review
1990
Review
1990
Primary hyperoxaluria type I is a metabolic disorder caused by the deficiency of the peroxisomal alanine: glyoxylate… (More)
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Highly Cited
1990
Highly Cited
1990
We have previously shown that in some patients with primary hyperoxaluria type 1 (PH1), disease is associated with mistargeting… (More)
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Highly Cited
1986
Highly Cited
1986
Activities of alanine:glyoxylate aminotransferase in the livers of two patients with primary hyperoxaluria type I were… (More)
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