Primary hyperoxaluria type 2

Known as: GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE DEFICIENCY, D-GLYCERATE DEHYDROGENASE DEFICIENCY, HP2 
Recessively inherited primary hyperoxaluria due to glyoxylate reductase/hydroxypyruvate reductase (GRHPR) deficiency.(NICHD)
National Institutes of Health

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Highly Cited
2004
Highly Cited
2004
Genes normally resident in euchromatic domains are silenced when packaged into heterochromatin, as exemplified in Drosophila… (More)
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2003
2003
Primary hyperoxaluria type 2, an inherited autosomal recessive disorder of endogenous oxalate overproduction, is caused by… (More)
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2002
2002
The primary hyperoxalurias (PH1 and PH2) are rare defects of oxalate overproduction. There are only 24 reported cases of PH2… (More)
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1999
1999
Hydroxypyruvate reductase (HPR) has been partially purified from human liver and can be separated into at least two forms by… (More)
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Highly Cited
1999
Highly Cited
1999
Primary hyperoxaluria type II (PH2) is a rare monogenic disorder that is characterized by a lack of the enzyme that catalyzes the… (More)
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Review
1997
Review
1997
Primary hyperoxaluria type 2 (PH2) is a rare disease with only 24 patients reported in the literature so far. It should be… (More)
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Highly Cited
1997
Highly Cited
1997
BACKGROUND & AIMS We recently identified a single R117H mutation in the cationic trypsinogen gene in several kindreds with an… (More)
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1996
1996
Although nephrocalcinosis is a classical finding in primary hyperoxaluria type 1 (PH 1) associated with a poor renal survival it… (More)
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1995
1995
Most cases of primary hyperoxaluria are due to deficiency of hepatic peroxisomal alanine:glyoxylate aminotransferase [i.e… (More)
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1988
1988
Primary hyperoxaluria type 2 (PH2) is a rare autosomal recessive disease characterized by excessive synthesis and excretion of L… (More)
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