Expanding the phenotype in argininosuccinic aciduria: need for new therapies (Q33569530)

28 July 2017

Expanding the phenotype in argininosuccinic aciduria: need for new therapies (English)

1 reference

argininosuccinic aciduria

28 July 2017

1 reference

James E Davison

26

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Alexander Broomfield

Alexander Broomfield

14

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Julien Baruteau

Julien Baruteau

1

0 references

Philippa B Mills

Philippa B Mills

24

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Robin Lachmann

Robin Lachmann

15

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Simon N. Waddington

Simon N Waddington

23

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Paul Gissen

Paul Gissen

25

0 references

Deborah Ridout

21

Deborah A Ridout

1 reference

28 July 2017

Elisabeth Jameson

2

1 reference

28 July 2017

Andrew A Morris

3

1 reference

28 July 2017

Anupam Chakrapani

4

1 reference

28 July 2017

Saikat Santra

5

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28 July 2017

Suresh Vijay

6

1 reference

28 July 2017

Huriye Kocadag

7

1 reference

28 July 2017

Clare E Beesley

8

1 reference

28 July 2017

Stephanie Grunewald

9

1 reference

28 July 2017

Elaine Murphy

10

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28 July 2017

Maureen Cleary

11

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28 July 2017

Helen Mundy

12

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28 July 2017

Lara Abulhoul

13

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28 July 2017

Yusof Rahman

16

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28 July 2017

Peter H Robinson

17

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28 July 2017

Lesley MacPherson

18

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28 July 2017

Katharine Foster

19

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28 July 2017

W Kling Chong

20

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28 July 2017

Kirsten McKay Bounford

22

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28 July 2017

1 March 2017

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Journal of Inherited Metabolic Disease

28 July 2017

1 reference

28 July 2017

40

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28 July 2017

357-368

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28 July 2017

3

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Creative Commons Attribution 4.0 International

28 July 2017

start time

1 March 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s10545-017-0022-x

0 references

cites work

Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium

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Endothelial nitric oxide synthase in the microcirculation

28 July 2018

1 reference

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Arginine deprivation and immune suppression in a mouse model of Alzheimer's disease

28 July 2018

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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

28 July 2018

1 reference

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Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria

28 July 2018

1 reference

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Nitric oxide synthase in innate and adaptive immunity: an update.

28 July 2018

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Deficient nitric oxide signalling impairs skeletal muscle growth and performance: involvement of mitochondrial dysregulation

28 July 2018

1 reference

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Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis

28 July 2018

1 reference

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Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

28 July 2018

1 reference

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S-nitrosylation of HDAC2 regulates the expression of the chromatin-remodeling factor Brm during radial neuron migration.

28 July 2018

1 reference

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Argininosuccinic aciduria: from a monogenic to a complex disorder

28 July 2018

1 reference

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Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ

28 July 2018

1 reference

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Interactions between the NO-citrulline cycle and brain-derived neurotrophic factor in differentiation of neural stem cells

28 July 2018

1 reference

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28 July 2018

1 reference

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

28 July 2018

1 reference

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Agmatine (decarboxylated L-arginine): physiological role and therapeutic potential

28 July 2018

1 reference

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Requirement of argininosuccinate lyase for systemic nitric oxide production.

28 July 2018

1 reference

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MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation

28 July 2018

1 reference

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Dynamic epigenetic regulation in neurons: enzymes, stimuli and signaling pathways

28 July 2018

1 reference

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Nitric oxide and redox regulation in the liver: part II. Redox biology in pathologic hepatocytes and implications for intervention

28 July 2018

1 reference

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Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia

28 July 2018

1 reference

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

28 July 2018

1 reference

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Nitric oxide-mediated epigenetic mechanisms in developing neurons

28 July 2018

1 reference

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Concepts of neural nitric oxide-mediated transmission

28 July 2018

1 reference

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

28 July 2018

1 reference

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HMDB: the Human Metabolome Database

28 July 2018

1 reference

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Mutational analysis of duck delta 2 crystallin and the structure of an inactive mutant with bound substrate provide insight into the enzymatic mechanism of argininosuccinate lyase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393288

Protein S-nitrosylation: a physiological signal for neuronal nitric oxide

28 July 2018

1 reference

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

28 July 2018

1 reference

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Nitric oxide as an antimicrobial agent: does NO always mean NO? [ comment]

28 July 2018

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Transient nitric oxide synthase neurons in embryonic cerebral cortical plate, sensory ganglia, and olfactory epithelium.

28 July 2018

1 reference

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Argininosuccinic aciduria. A new case revealed by psychiatric disorders

28 July 2018

1 reference

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

28 July 2018

1 reference

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Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 years

28 July 2018

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Brain MRI and magnetic resonance spectroscopy findings in patients with hyperargininemia.

21 January 2018

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Agmatine exerts anticonvulsant effect in mice: modulation by alpha 2-adrenoceptors and nitric oxide

21 January 2018

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Hereditary urea cycle diseases in Finland

21 January 2018

1 reference

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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

2 references

https://api.crossref.org/works/10.1007%2FS10545-017-0022-X

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393288

Spatial learning-induced increase in agmatine levels at hippocampal CA1 synapses.

31 October 2018

1 reference

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21 January 2018

1 reference

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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/10.1007%2FS10545-017-0022-X

Argininosuccinate lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0022-X

Nitric oxide triggers a switch to growth arrest during differentiation of neuronal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0022-X

Effects on kidney filtration rate by agmatine requires activation of ryanodine channels for nitric oxide generation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0022-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0022-X

Creatine deficiency in the brain: a new, treatable inborn error of metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0022-X

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0022-X

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/10.1007%2FS10545-017-0022-X

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393288

Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393288

Late onset argininosuccinic aciduria in a paranoid retardate

31 October 2018

1 reference

12 December 2020

Nitrite reduction to nitric oxide by deoxyhemoglobin vasodilates the human circulation

1 reference

12 December 2020

Creatine metabolism in urea cycle defects

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

Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene

1 reference

12 December 2020

10.1007/S10545-017-0022-X

Identifiers

DOI

1 reference

Dimensions Publication ID

28 July 2017

0 references

1 reference

28 July 2017

1 reference