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Primary hyperoxaluria, type I
Known as:
Peroxisomal alanine glyoxylate aminotransferase deficiency
, SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY
, Alanine-glyoxylate aminotransferase deficiency
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Recessively inherited primary hyperoxaluria due to alanine-glyoxylate aminotransferase (AGXT) deficiency.(NICHD)
National Institutes of Health
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Related topics
Related topics
28 relations
AGXT gene
Arterial spasm
Autosomal recessive inheritance
Bone pain
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Broader (1)
Primary Hyperoxaluria
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
Haptoglobin genotype modifies the association between dietary vitamin C and serum ascorbic acid deficiency.
L. Cahill
,
A. El-Sohemy
American Journal of Clinical Nutrition
2010
Corpus ID: 25655700
BACKGROUND Haptoglobin (which is encoded by the Hp gene) is a hemoglobin-binding protein that has antioxidant properties and a…
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2007
2007
Dynamic and selective interactions of the transcriptional corepressor TIF1 beta with the heterochromatin protein HP1 isotypes during cell differentiation.
F. Cammas
,
A. Janoshazi
,
T. Lerouge
,
R. Losson
Differentiation; research in biological diversity
2007
Corpus ID: 44521855
Cell differentiation is a multi-step process marked by progressive silencing of gene expression through mechanisms believed to…
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Review
2003
Review
2003
Primary hyperoxaluria: genotype-phenotype correlation.
D. Pirulli
,
M. Marangella
,
A. Amoroso
JN. Journal of Nephrology (Milano. )
2003
Corpus ID: 24287021
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate…
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2002
2002
Paradoxical Enhancement of the Toxicity of 1,2-Dibromoethane byO 6-Alkylguanine-DNA Alkyltransferase*
Liping Liu
,
A. Pegg
,
K. Williams
,
F. Guengerich
Journal of Biological Chemistry
2002
Corpus ID: 25985323
The presence of the DNA repair proteinO 6-alkylguanine-DNA alkyltransferase (AGT) paradoxically increases the mutagenicity and…
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Review
1998
Review
1998
Preemptive liver transplantation in primary hyperoxaluria type 1: timing and preliminary results.
M. Kemper
,
D. Nolkemper
,
+6 authors
D. Müller‐Wiefel
JN. Journal of Nephrology (Milano. )
1998
Corpus ID: 21653658
Preemptive isolated liver transplantation (PLTX) can cure the metabolic defect in primary hyperoxaluria type 1 (PH1) but there…
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1997
1997
A Semiautomated Alanine: Glyoxylate Aminotransferase Assay for the Tissue Diagnosis of Primary Hyperoxaluria Type 1
G. Rumsby
,
T. Weir
,
C. Samuell
Annals of Clinical Biochemistry
1997
Corpus ID: 19518350
We have developed a sensitive assay for the measurement of alanine:glyoxylate aminotransferase (EC 2.6.1.44) activity in human…
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1993
1993
Cytogenetic and molecular aspects of position-effect variegation in Drosophila melanogaster
E. Belyaeva
,
O. Demakova
,
G. H. Umbetova
,
I. Zhimulev
Chromosoma
1993
Corpus ID: 20264476
Position-effect variegation in Drosophila melanogaster is accompanied by compaction of the corresponding chromosomal regions. The…
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1992
1992
Immunocytochemical analysis of AlgP (Hp1), a histonelike element participating in control of mucoidy in Pseudomonas aeruginosa
V. Deretic
,
N. Hibler
,
S. Holt
Journal of Bacteriology
1992
Corpus ID: 44997666
AlgP, a protein with an unusual carboxy-terminal domain resembling the tails of eukaryotic H1 histones, was detected in whole…
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1989
1989
Liver cell specific gene transcription in vitro: the promoter elements HP1 and TATA box are necessary and sufficient to generate a liver-specific promoter.
G. Ryffel
,
W. Kugler
,
U. Wagner
,
M. Kaling
Nucleic Acids Research
1989
Corpus ID: 5837472
The hepatocyte-specific promoter element HP1, which is present in several genes specifically expressed in the liver, is active in…
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1984
1984
The effect of vitamin B6 deficiency on alanine: glyoxylate aminotransferase isoenzymes in rat liver.
Y. Takada
,
T. Mori
,
T. Noguchi
Archives of Biochemistry and Biophysics
1984
Corpus ID: 40159878
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