×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.
27797444
2017
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
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
GeneticVariation
disease
CLINVAR
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.
25595217
2015
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.
25595217
2015
×
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
CLINVAR
An informatics approach to analyzing the incidentalome.
22995991
2013
×
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
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
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance.
23114028
2012
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
21228398
2011
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.
20882353
2010
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
UNIPROT
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
20848650
2010
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
20848650
2010
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.
20882353
2010
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GermlineCausalMutation
disease
ORPHANET
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
20848650
2010
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.
20033295
2010
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.
20033295
2010
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
CausalMutation
disease
CLINVAR
Secondary disorders of glycosylation in inborn errors of fructose metabolism.
19768653
2009
×
Entrez Id:
229
Gene Symbol:
ALDOB
ALDOB
0.770
GeneticVariation
disease
CLINVAR
Secondary disorders of glycosylation in inborn errors of fructose metabolism.
19768653
2009
×
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
GeneticVariation
disease
LHGDN
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
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
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
Biomarker
disease
CTD_human
Doctor, my son is so tired... about a case of hereditary fructose intolerance.
18035330
2007