(Q33737998)

29 July 2017

1 reference

title

Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency (English)

1 reference

29 July 2017

Fernando Scaglia

1

1 reference

PubMed ID

16602094

29 July 2017

Brendan Lee

series ordinal

2

1 reference

PubMed ID

16602094

29 July 2017

language of work or name

1 reference

1 May 2006

1 reference

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

29 July 2017

1 reference

29 July 2017

142C

1 reference

29 July 2017

2

1 reference

29 July 2017

113-120

1 reference

Hyperargininemia due to liver arginase deficiency

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Arginases I and II: do their functions overlap?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Mouse model for human arginase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Alternative pathway therapy for urea cycle disorders: twenty years later

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

The human arginases and arginase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Cloning and characterization of the human type II arginase gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Urea cycle disorders: diagnosis, pathophysiology, and therapy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Molecular basis of phenotypic variation in patients with argininemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Properties of fetal and adult red blood cell arginase: a possible prenatal diagnostic test for arginase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Glial and neuronal Na+-K+ pump in epilepsy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Isolation of human liver arginase cDNA and demonstration of nonhomology between the two human arginase genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Guanidino compounds in uraemic dialysed patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Molecular cloning and nucleotide sequence of cDNA for human liver arginase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Differential expression of the two human arginase genes in hyperargininemia. Enzymatic, pathologic, and molecular analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

The changes in guanidino compounds in the brain of amygdala kindled seizure--comparisons with electric convulsive shock seizure.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Guanidino compounds that are increased in hyperargininemia inhibit GABA and glycine responses on mouse neurons in cell culture

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Guanidino Compound Analysis as a Complementary Diagnostic Parameter for Hyperargininemia: Follow-Up of Guanidino Compound Levels during Therapy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Familial hyperargininaemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

A simple screening test for arginase deficiency (hyperargininemia).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Lipid requirement of the membrane sodium-plus-potassium ion-dependent adenosine triphosphatase system

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Prenatal diagnosis for arginase deficiency: a case study

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

In vitro stimulation of oxidative stress in cerebral cortex of rats by the guanidino compounds accumulating in hyperargininemia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

In vitro inhibition of Na+,K(+)-ATPase activity from rat cerebral cortex by guanidino compounds accumulating in hyperargininemia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Purification of a multipotent antideath activity from bovine liver and its identification as arginase: nitric oxide-independent inhibition of neuronal apoptosis.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052756

Erythrocyte transketolase activity in dialyzed patients. A reversible metabolic lesion of uremia

30 October 2018

1 reference

12 December 2020

1 reference

12 December 2020

Argininemia treated from birth

1 reference

12 December 2020

Hyperargininemia with Arginase Deficiency

1 reference

12 December 2020

Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias

1 reference

12 December 2020

Newborn screening of urea cycle disorders

1 reference

12 December 2020

Clinical and biochemical findings in argininemia

1 reference

12 December 2020

Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet

1 reference

12 December 2020

A new French-Canadian family affected by hyperargininaemia

1 reference

12 December 2020

Treatment of hyperargininemia with sodium benzoate and arginine-restricted diet

1 reference

12 December 2020

Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine

1 reference

12 December 2020

Effects of α-keto-δ-guanidinovaleric acid on inhibitory amino acid responses on mouse neurons in cell culture

1 reference

12 December 2020

[Late diagnosis of congenital argininemia during administration of sodium valproate]

1 reference

12 December 2020

Estimated frequency of urea cycle enzymopathies in Japan

1 reference

12 December 2020

The pathobiochemistry of uremia and hyperargininemia further demonstrates a metabolic relationship between urea and guanidinosuccinic acid

1 reference

12 December 2020

Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Preferential hydrolysis of endogenous arginine by rat liver arginase

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.C.30091

1 reference

29 July 2017

1 reference

29 July 2017

1 reference

PubMed ID

16602094