×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
BEFREE
This is the first report of HFI with the mutation c.479_482 del AACA in the ALDOB gene in a Chinese family.
17955389
2007
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
Biomarker
disease
BEFREE
The Aldo2 (-/-) homozygous mice show similar pathology following exposure to fructose as humans with HFI such as failure to thrive, liver dysfunction, and potential morbidity.
25637246
2015
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
BEFREE
The presented data also emphasize the usefulness of ALDOB mutation screening for diagnosis of HFI .
17457694
2007
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
AlteredExpression
disease
BEFREE
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
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
BEFREE
Sixteen different mutations of the aldolase B (ALDOB ) gene were identified in HFI patients.
18541450
2008
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
BEFREE
Fifteen different mutations of the aldolase B (ALDOB ) gene were identified in HFI patients.
15880727
2005
SERPINA13P
0.010
Biomarker
disease
BEFREE
Protease inhibitor typing was not conclusive, presumably because of impaired N-glycosylation secondary to HFI .
10869005
2000
×
Entrez Id:
51085
Gene Symbol:
MLXIPL
MLXIPL
0.010
Biomarker
disease
BEFREE
We recently identified that the loss of ChREBP leads to fructose intolerance via insufficient induction of genes involved in fructose transport and metabolism in the intestine.
30158026
2018
×
Entrez Id:
3240
Gene Symbol:
HP
HP
0.010
Biomarker
disease
BEFREE
Although secondary glycosylation defects such as alcoholism, untreated fructosemia and bacterial neuraminidase remain to be excluded, we showed that 2-DE pattern of haptoglobin β glycoforms thus constitute a very reliable additional biomarker of all types of CDGs.
28457853
2017
×
Entrez Id:
3795
Gene Symbol:
KHK
KHK
0.010
Biomarker
disease
BEFREE
Mechanistically, our studies suggest that it is the inhibition of the Khk C isoform, not the A isoform, that protects animals from HFI .
29533924
2018
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.
12417303
2002
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Sixteen different mutations of the aldolase B (ALDOB ) gene were identified in HFI patients.
18541450
2008
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.
12417303
2002
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
Hereditary fructose intolerance in Brazilian patients.
26937407
2015
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.
23430936
2012
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.
8071980
1994
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance.
17955389
2007
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Mutation analysis in Turkish patients with hereditary fructose intolerance.
11757579
2001
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
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
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
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
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.
2336380
1990
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.
2336380
1990
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
Fifteen different mutations of the aldolase B (ALDOB ) gene were identified in HFI patients.
15880727
2005
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
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
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.
25595217
2015