2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Adenine phosphoribosyltransferase deficiency.
|
22700886 |
2012 |
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The comparative analysis shown here also provides structural information for the mechanism by which mutations in the human APRT lead to DHA-urolithiasis.
|
15196008 |
2004 |
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
|
15571218 |
2004 |
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.
|
11243733 |
2001 |
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
disease |
MGD |
Sequential analysis of kidney stone formation in the Aprt knockout mouse.
|
11532086 |
2001 |
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
disease |
BEFREE |
We describe a Czech patient with combined adenine phosphoribosyltransferase (APRT) deficiency (2,8-dihydroxyadenine urolithiasis) and N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency (mucopolysaccharidosis Type IVA, Morquio disease A).
|
10479485 |
1999 |
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
disease |
MGD |
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.
|
9689017 |
1998 |
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Adenine phosphoribosyltransferase (APRT) is a purine metabolic enzyme and a homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis.
|
9521589 |
1998 |
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
disease |
MGD |
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis.
|
8864750 |
1996 |
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
disease |
MGD |
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.
|
8643571 |
1996 |
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
disease |
BEFREE |
A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.
|
8455250 |
1993 |
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Adenine phosphoribosyltransferase (APRT) deficiency causing 2,8-dihydroxyadenine urolithiasis and renal failure is present at a high frequency among the Japanese but not other ethnic groups.
|
2227951 |
1990 |
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report here the first evidence that 2,8-dihydroxyadenine urolithiasis developed in a boy aged 2 years with a genotype of APRT*J/APRT*Q0.
|
2227934 |
1990 |
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A mutant adenine phosphoribosyltransferase in 2,8-dihydroxyadenine urolithiasis.
|
3767554 |
1986 |
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Three siblings in a Japanese family experienced recurrent 2,8-dihydroxyadenine urolithiasis despite the presence of adenine phosphoribosyltransferase (APRT) activities in the hemolysates (19.9% to 28.2% of normal value).
|
2418331 |
1986 |
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
disease |
BEFREE |
2,8-Dihydroxyadenine urolithiasis associated with partial deficiencies of adenine phosphoribosyltransferase (APRT) has been found only among Japanese families.
|
3876264 |
1985 |
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|