Hereditary fructose intolerance syndrome
|
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 |
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 |
Hereditary fructose intolerance in Brazilian patients.
|
26937407 |
2015 |
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 |
CausalMutation
|
disease |
CLINVAR |
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.
|
25595217 |
2015 |
Hereditary fructose intolerance syndrome
|
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 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
An informatics approach to analyzing the incidentalome.
|
22995991 |
2013 |
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 |
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 |
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance.
|
23114028 |
2012 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
|
20848650 |
2010 |
Hereditary fructose intolerance syndrome
|
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 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
|
20848650 |
2010 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.
|
20033295 |
2010 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.
|
20033295 |
2010 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Secondary disorders of glycosylation in inborn errors of fructose metabolism.
|
19768653 |
2009 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Secondary disorders of glycosylation in inborn errors of fructose metabolism.
|
19768653 |
2009 |
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 |
GeneticVariation
|
disease |
LHGDN |
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 |
Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients.
|
18541450 |
2008 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients.
|
18541450 |
2008 |
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 |