Triosephosphate Isomerase Deficiency
|
0.900 |
Biomarker
|
disease |
MGD |
Bone marrow transplantation corrects haemolytic anaemia in a novel ENU mutagenesis mouse model of TPI deficiency.
|
29720471 |
2018 |
Triosephosphate Isomerase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.
|
27717089 |
2017 |
Triosephosphate Isomerase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.
|
26863999 |
2016 |
Triosephosphate Isomerase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency.
|
24840153 |
2014 |
Triosephosphate Isomerase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency.
|
24192681 |
2013 |
Triosephosphate Isomerase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The E104D mutation increases the susceptibility of human triosephosphate isomerase to proteolysis. Asymmetric cleavage of the two monomers of the homodimeric enzyme.
|
24056040 |
2013 |
Triosephosphate Isomerase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene.
|
20374271 |
2010 |
Triosephosphate Isomerase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Structural basis of human triosephosphate isomerase deficiency: mutation E104D is related to alterations of a conserved water network at the dimer interface.
|
18562316 |
2008 |
Triosephosphate Isomerase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Triose phosphate isomerase deficiency is caused by altered dimerization--not catalytic inactivity--of the mutant enzymes.
|
17183658 |
2006 |
Triosephosphate Isomerase Deficiency
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency.
|
11698297 |
2001 |
Triosephosphate Isomerase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case.
|
11196750 |
2001 |
Triosephosphate Isomerase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris).
|
10910933 |
2000 |
Triosephosphate Isomerase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia.
|
9842650 |
1999 |
Triosephosphate Isomerase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency.
|
9338582 |
1997 |
Triosephosphate Isomerase Deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency.
|
9338582 |
1997 |
Triosephosphate Isomerase Deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus.
|
8571957 |
1996 |
Triosephosphate Isomerase Deficiency
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families.
|
7485100 |
1995 |
Triosephosphate Isomerase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families.
|
7485100 |
1995 |
Triosephosphate Isomerase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis.
|
7628118 |
1995 |
Triosephosphate Isomerase Deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Human triosephosphate isomerase deficiency resulting from mutation of Phe-240.
|
8503454 |
1993 |
Triosephosphate Isomerase Deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme.
|
2876430 |
1986 |
Triosephosphate Isomerase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme.
|
2876430 |
1986 |
Triosephosphate Isomerase Deficiency
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
Triosephosphate Isomerase Deficiency
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Anemia, Hemolytic
|
0.480 |
Biomarker
|
disease |
BEFREE |
Triosephosphate isomerase (TPI) deficiency is a fatal genetic disorder characterized by hemolytic anemia and neurological dysfunction.
|
31111503 |
2019 |