Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.
|
12417303 |
2002 |
Hereditary fructose intolerance syndrome
|
0.770 |
Biomarker
|
disease |
CTD_human |
Doctor, my son is so tired... about a case of hereditary fructose intolerance.
|
18035330 |
2007 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients.
|
18541450 |
2008 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.
|
12417303 |
2002 |
Hereditary fructose intolerance syndrome
|
0.770 |
Biomarker
|
disease |
CTD_human |
Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.
|
3383242 |
1988 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.
|
10970798 |
2000 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Hereditary fructose intolerance in Brazilian patients.
|
26937407 |
2015 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.
|
23430936 |
2012 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.
|
8071980 |
1994 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance.
|
17955389 |
2007 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
LHGDN |
The presented data also emphasize the usefulness of ALDOB mutation screening for diagnosis of HFI.
|
17457694 |
2007 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis in Turkish patients with hereditary fructose intolerance.
|
11757579 |
2001 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene.
|
8096362 |
1993 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Hereditary fructose intolerance (HFI) is a recessively inherited disorder of carbohydrate metabolism caused by impaired functioning of human liver aldolase (B isoform; ALDOB).
|
15532022 |
2004 |
Hereditary fructose intolerance syndrome
|
0.770 |
Biomarker
|
disease |
CTD_human |
Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance.
|
15733923 |
2005 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.
|
2336380 |
1990 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.
|
2336380 |
1990 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Fifteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients.
|
15880727 |
2005 |
Hereditary fructose intolerance syndrome
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance.
|
12464284 |
2002 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.
|
25595217 |
2015 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.
|
20882353 |
2010 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
A partially active mutant aldolase B from a patient with hereditary fructose intolerance.
|
8299883 |
1994 |
Hereditary fructose intolerance syndrome
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.
|
8071980 |
1994 |