(Q34775132)

4 August 2017

1 reference

title

Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond (English)

1 reference

4 August 2017

Ayelet Erez

1

1 reference

PubMed ID

21312326

4 August 2017

Sandesh C Sreenath Nagamani

series ordinal

2

1 reference

PubMed ID

21312326

4 August 2017

Brendan Lee

series ordinal

3

1 reference

4 August 2017

10 February 2011

1 reference

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

4 August 2017

1 reference

4 August 2017

157C

1 reference

4 August 2017

1

1 reference

4 August 2017

45-53

1 reference

Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations

4 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Cross-sectional multicenter study of patients with urea cycle disorders in the United States

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Orotic acid excretion and arginine metabolism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Inefficient spin trapping of superoxide in the presence of nitric-oxide: implications for studies on nitric-oxide synthase uncoupling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Quantifying the L-arginine paradox in vivo

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

The role of nitric oxide in cardiovascular diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Arginine metabolic enzymes, nitric oxide and infection

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Controlled modulation of inflammatory, stress and apoptotic responses in macrophages

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

A mouse model of argininosuccinic aciduria: biochemical characterization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Role of nitric oxide in the synthesis of guanidinosuccinic acid, an activator of the N-methyl-D-aspartate receptor.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Consensus statement from a conference for the management of patients with urea cycle disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Intragenic complementation and the structure and function of argininosuccinate lyase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Crystal structure of an inactive duck delta II crystallin mutant with bound argininosuccinate

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Arginine metabolism: nitric oxide and beyond

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Human argininosuccinate lyase: a structural basis for intragenic complementation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Urea cycle disorders: diagnosis, pathophysiology, and therapy.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Amino Acid Acylation: A Mechanism of Nitrogen Excretion in Inborn Errors of Urea Synthesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Argininosuccinic aciduria. Case report with neuropathological findings

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Recruitment of enzymes as lens structural proteins

7 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

7 July 2018

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Cloning and sequence analysis of cDNA for human argininosuccinate lyase

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Enzyme/crystallins: gene sharing as an evolutionary strategy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Biochemical characterization and kinetic analysis of duck delta-crystallin with endogenous argininosuccinate lyase activity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Convulsive action and toxicity of uremic guanidino compounds: behavioral assessment and relation to brain concentration in adult mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Reactive oxygen species and the central nervous system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

Heritable urea cycle enzyme deficiency-liver disease in 16 patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073162

A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.

7 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Inhibition of arginine synthesis by urea: a mechanism for arginine deficiency in renal failure which leads to increased hydroxyl radical generation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Alternative pathway therapy for urea cycle disorders: twenty years later

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Argininosuccinic aciduria: investigation of an affected family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Metabolic syndrome and urinary cGMP excretion in general population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Trichorrhexis nodosa secondary to argininosuccinicaciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Argininosuccinic aciduria: clinical and biochemical findings in three children with the late onset form, with special emphasis on cerebrospinal fluid findings of amino acids and pyrimidines.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Genetic approach to prenatal diagnosis in urea cycle defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Long-term correction of urea cycle disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Prospective treatment of urea cycle disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Long-term survival of patients with argininosuccinate synthetase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Successful pregnancy outcome in a woman with argininosuccinate lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Liver transplantation for argininosuccinic aciduria: clinical, biochemical, and metabolic outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Experience with the treatment of argininosuccinic aciduria during pregnancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Successful liver transplantation for argininosuccinate lyase deficiency (ASLD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

Liver transplantation in urea cycle disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30289

A familial study of a human enzyme defect, argininosuccinic aciduria

21 January 2018

1 reference

12 December 2020

Source and fate of circulating citrulline

1 reference

12 December 2020

Severe liver fibrosis in argininosuccinic aciduria

1 reference

12 December 2020

Argininosuccinic aciduria: long-term treatment with arginine

1 reference

12 December 2020

Homology of delta crystallin and argininosuccinate lyase

1 reference

12 December 2020

Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.C.30289

1 reference

4 August 2017

1 reference

4 August 2017

1 reference

PubMed ID

21312326