|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.
|
31568711 |
2019 |
|
Tyrosinemia, Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
The mechanistic insights reported here pave the way for the development of pharmacological chaperones that target FAH to tackle the severe disease HT1.
|
31300554 |
2019 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I.
|
30954369 |
2019 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fumarylacetoacetate hydrolase (FAH) is the last enzyme in tyrosine catabolism, and mutations in the <i>FAH</i> gene are associated with hereditary tyrosinemia type I (HT1 or TYRSN1) in humans.
|
31611405 |
2019 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Children born with fumarylacetoacetate hydrolase (FAH) mutations suffer from Hepatorenal Tyrosinemia Type 1 (HT-1) resulting in renal dysfunction, liver failure, neurological impairments, and cancer.
|
30368954 |
2018 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hereditary tyrosinemia type I (HTI) is a metabolic genetic disorder caused by mutation of fumarylacetoacetate hydrolase (FAH).
|
29507093 |
2018 |
|
Tyrosinemia, Type I
|
1.000 |
Biomarker
|
disease |
RGD |
Hereditary tyrosinemia type I (HTI) is a metabolic genetic disorder caused by mutation of fumarylacetoacetate hydrolase (FAH).
|
29507093 |
2018 |
|
Tyrosinemia, Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
Hereditary tyrosinemia type I (HTI) is a rare autosomal recessive disorder caused by a fumarylacetoacetate hydrolase (FAH) deficiency.
|
28755192 |
2017 |
|
Tyrosinemia, Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening marker for hepatorenal tyrosinemia type 1 (HT1, MIM 276700) caused by deficiency of fumarylacetoacetate hydrolase (FAH).
|
27876694 |
2017 |
|
Tyrosinemia, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.
|
28755192 |
2017 |
|
Tyrosinemia, Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1.
|
28053091 |
2017 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hereditary tyrosinemia type I (HT1) is caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene, the template for the final enzyme in the tyrosine catabolism pathway.
|
28712060 |
2017 |
|
Tyrosinemia, Type I
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Tyrosinemia, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.
|
26565546 |
2016 |
|
Tyrosinemia, Type I
|
1.000 |
Biomarker
|
disease |
RGD |
The Fah(-/-) rats faithfully represented major phenotypic and biochemical manifestations of human HT1, including hypertyrosinemia, liver failure, and renal tubular damage.
|
27510266 |
2016 |
|
Tyrosinemia, Type I
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Therapeutic genome editing by combined viral and non-viral delivery of CRISPR system components in vivo.
|
26829318 |
2016 |
|
Tyrosinemia, Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
The Fah(-/-) rats faithfully represented major phenotypic and biochemical manifestations of human HT1, including hypertyrosinemia, liver failure, and renal tubular damage.
|
27510266 |
2016 |
|
Tyrosinemia, Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
Tyrosinemia type I (TYRSN1, TYR I) is caused by fumarylacetoacetate hydrolase (FAH) deficiency and affects approximately one in 100,000 individuals worldwide.
|
27397503 |
2016 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We present here the first report on identification of FAH mutations in HT1 patients from Pakistan with a novel one.
|
26565546 |
2016 |
|
Tyrosinemia, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Type 1 Tyrosinaemia.
|
27814443 |
2016 |
|
Tyrosinemia, Type I
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Tyrosinemia, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
|
25256450 |
2015 |
|
Tyrosinemia, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
|
25681080 |
2015 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
|
25681080 |
2015 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
|
25087612 |
2014 |