|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
|
21667091 |
2012 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy.
|
23430928 |
2012 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria.
|
22231378 |
2012 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this article, we discuss the natural history of ASA and the recent mechanistic insights from animal studies that have shown the requirement of argininosuccinate lyase, the enzyme deficient in ASA, for systemic nitric oxide production.
|
22841516 |
2012 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria.
|
22231378 |
2012 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
BEFREE |
We show that a hypomorphic mouse model of argininosuccinate lyase (encoded by Asl) deficiency has a distinct phenotype of multiorgan dysfunction and NO deficiency.
|
22081021 |
2011 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Deficiency of ASL results in an accumulation of argininosuccinic acid in tissues, and excretion of argininosuccinic acid in urine leading to the condition argininosuccinic aciduria (ASA).
|
21312326 |
2011 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Epilepsy and argininosuccinic aciduria.
|
21744316 |
2011 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Deficiency of ASL results in an accumulation of argininosuccinic acid in tissues, and excretion of argininosuccinic acid in urine leading to the condition argininosuccinic aciduria (ASA).
|
21312326 |
2011 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
MGD |
We show that a hypomorphic mouse model of argininosuccinate lyase (encoded by Asl) deficiency has a distinct phenotype of multiorgan dysfunction and NO deficiency.
|
22081021 |
2011 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
We show that a hypomorphic mouse model of argininosuccinate lyase (encoded by Asl) deficiency has a distinct phenotype of multiorgan dysfunction and NO deficiency.
|
22081021 |
2011 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We show that a hypomorphic mouse model of argininosuccinate lyase (encoded by Asl) deficiency has a distinct phenotype of multiorgan dysfunction and NO deficiency.
|
22081021 |
2011 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.
|
20298553 |
2010 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.
|
20236848 |
2010 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.
|
20236848 |
2010 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Deficiency of argininosuccinate lyase (ASL) causes argininosuccinic aciduria, an urea cycle defect that may present with a severe neonatal onset form or with a late onset phenotype.
|
19703900 |
2009 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Deficiency of argininosuccinate lyase (ASL) causes argininosuccinic aciduria, an urea cycle defect that may present with a severe neonatal onset form or with a late onset phenotype.
|
19703900 |
2009 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Deficiency of argininosuccinate lyase (ASL) causes argininosuccinic aciduria, an urea cycle defect that may present with a severe neonatal onset form or with a late onset phenotype.
|
19703900 |
2009 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Hereditary urea cycle diseases in Finland.
|
18616627 |
2008 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Hereditary urea cycle diseases in Finland.
|
18616627 |
2008 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
|
17326097 |
2007 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
|
17326097 |
2007 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
|
17326097 |
2007 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
|
17326097 |
2007 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Six individuals with ASAL deficiency had alleles that led to a complete absence of exon 13 from the ASL mRNA; each had a partial deletion of exon 13 in the genomic DNA.
|
16941645 |
2006 |