(Q38073117)

28 August 2017

1 reference

title

Argininosuccinic aciduria: from a monogenic to a complex disorder (English)

1 reference

argininosuccinic aciduria

28 August 2017

1 reference

Ayelet Erez

1

1 reference

PubMed ID

23306800

28 August 2017

language of work or name

English

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publication date

10 January 2013

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28 August 2017

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28 August 2017

15

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28 August 2017

4

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28 August 2017

251-257

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https://scigraph.springernature.com/pub.10.1038/gim.2012.166

28 August 2017

0 references

cites work

Phenylketonuria and other phenylalanine hydroxylation mutants in man.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Genetic disease since 1945.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Monogenic traits are not simple: lessons from phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Requirement of argininosuccinate lyase for systemic nitric oxide production.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Argininosuccinate lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

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/10.1038%2FGIM.2012.166

Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Argininosuccinic aciduria: investigation of an affected family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Inborn errors of metabolism: the flux from Mendelian to complex diseases.

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.166

Flux estimation using isotopic tracers: common ground for metabolic physiology and metabolic engineering

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.166

Bidirectionality and compartmentation of metabolic fluxes are revealed in the dynamics of isotopomer networks

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Consequences of complexity within biological networks: robustness and health, or vulnerability and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Optimizing therapy for argininosuccinic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.166

Phosphorylation of threonine 497 in endothelial nitric-oxide synthase coordinates the coupling of L-arginine metabolism to efficient nitric oxide production

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Oxygen reduction by nitric-oxide synthases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Reactive oxygen species and the central nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

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/10.1038%2FGIM.2012.166

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.166

21 January 2018

Moonlighting proteins.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Evolution of protein fold in the presence of functional constraints

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Moonlighting proteins: old proteins learning new tricks.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Human argininosuccinate lyase: a structural basis for intragenic complementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Recruitment of enzymes as lens structural proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

7 January 2021

Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

7 January 2021

Urea biosynthesis I. The urea cycle and relationships to the citric acid cycle

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

7 January 2021

Homology of delta crystallin and argininosuccinate lyase

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.166

7 January 2021

Identifiers

DOI

10.1038/GIM.2012.166

1 reference

28 August 2017

1 reference

PubMed ID

23306800