Contrasting features of urea cycle disorders in human patients and knockout mouse models (Q36969510)

17 August 2017

1 reference

title

Contrasting features of urea cycle disorders in human patients and knockout mouse models (English)

1 reference

17 August 2017

0 references

Joshua L Deignan

1

1 reference

17 August 2017

Stephen D Cederbaum

series ordinal

2

1 reference

17 August 2017

Wayne W Grody

series ordinal

3

1 reference

17 August 2017

language of work or name

1 reference

22 October 2007

1 reference

Molecular Genetics and Metabolism

17 August 2017

1 reference

17 August 2017

93

1 reference

17 August 2017

1

1 reference

17 August 2017

7-14

1 reference

The physiology and evolution of urea transport in fishes

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Mammalian N-acetylglutamate synthase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

A mouse model of argininosuccinic aciduria: biochemical characterization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Cloning and expression of the human N-acetylglutamate synthase gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Mouse model for human arginase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Identification, cloning and expression of the mouse N-acetylglutamate synthase gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

High-capacity 'gutless' adenoviral vectors.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Generation of a mouse model for arginase II deficiency by targeted disruption of the arginase II gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Long-term correction of urea cycle disorders

29 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

29 September 2017

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

Alternative pathway therapy for urea cycle disorders: twenty years later

7 January 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Proceedings of a consensus conference for the management of patients with urea cycle disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

High-capacity adenoviral vectors for gene transfer and somatic gene therapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Mice deficient in the urea-cycle enzyme, carbamoyl phosphate synthetase I, die during the early neonatal period from hyperammonemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Evaluation of gene therapy for citrullinaemia using murine and bovine models.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Human type II arginase: sequence analysis and tissue-specific expression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Molecular cloning of cDNA for nonhepatic mitochondrial arginase (arginase II) and comparison of its induction with nitric oxide synthase in a murine macrophage-like cell line

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Urea cycle disorders: diagnosis, pathophysiology, and therapy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Patient selection may affect gene therapy success. Dominant negative effects observed for ornithine transcarbamylase in mouse and human hepatocytes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

The biochemistry and toxicology of benzoic acid metabolism and its relationship to the elimination of waste nitrogen

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

The Evolutionary History of the Ornithine Cycle as a Determinant of Its Structure and Regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Molecular cloning of cDNA for rat and human carbamyl phosphate synthetase I.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

The molecular basis of the sparse fur mouse mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Mammalian urea cycle enzymes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

The human argininosuccinate synthetase locus and citrullinemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Cloning and sequence analysis of cDNA for human argininosuccinate lyase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Correction of mouse ornithine transcarbamylase deficiency by gene transfer into the germ line

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Molecular definition of bovine argininosuccinate synthetase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Evolutionary aspects of urea cycle enzyme genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamsterxhuman somatic cell hybrids

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

The nutritional management of urea cycle disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Liver transplantation for the treatment of urea cycle disorders

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Cloning and characterization of the human type II arginase gene.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Correction of ornithine transcarbamylase deficiency in adult spf(ash) mice and in OTC-deficient human hepatocytes with recombinant adenoviruses bearing the CAG promoter

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Immunologic studies of arginase in tissues of normal human adult and arginase-deficient patients.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Characterization and derivation of the gene coding for mitochondrial carbamyl phosphate synthetase I of rat.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Assignment of the structural gene for argininosuccinate synthetase to proximal mouse chromosome 2.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Molecular characterization of the murine argininosuccinate synthetase locus.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Retroviral-mediated gene transfer of human ornithine transcarbamylase into primary hepatocytes of spf and spf-ash mice

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Ornithine deficiency in the arginase double knockout mouse.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Long-term correction of ornithine transcarbamylase deficiency by WPRE-mediated overexpression using a helper-dependent adenovirus

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Mutation analysis in patients with N-acetylglutamate synthase deficiency

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Correction of argininosuccinate synthetase (AS) deficiency in a murine model of citrullinemia with recombinant adenovirus carrying human AS cDNA.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

The sparse fur mouse as a model for gene therapy in ornithine carbamoyltransferase deficiency

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Prolonged metabolic correction in adult ornithine transcarbamylase-deficient mice with adenoviral vectors

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692509

Liver transplantation in urea cycle disorders

4 September 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

Menstrual cycle and gonadal steroid effects on symptomatic hyperammonaemia of urea-cycle-based and idiopathic aetiologies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey

7 January 2021

2 references

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

7 January 2021

https://pubmed.ncbi.nlm.nih.gov/17933574

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

A new allele of the sparse fur gene in the mouse

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

Ornithine Transcarbamylase Deficiency in Mutant Mice I. Studies on the Characterization of Enzyme Defect and Suitability as Animal Model of Human Disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

Expression of ornithine transcarbamylase deficiency in the small intestine and colon of sparse-fur mutant mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

Estimated frequency of urea cycle enzymopathies in Japan

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

Citrullinaemia as a cause of neurological disease in neonatal Friesian calves

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

A familial study of a human enzyme defect, argininosuccinic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase alpha sites

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

Regional localization of the mouse argininosuccinate lyase gene to chromosome 5

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

Hyperargininemia with Arginase Deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

Molecular basis of hyperargininemia: structure-function consequences of mutations in human liver arginase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

Loss of function mutations in conserved regions of the human arginase I gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.123

Mutation analysis of Korean patients with citrullinemia

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17933574

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of deletions at the human argininosuccinate synthetase locus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17933574

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2007.08.123

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

17933574

1 reference