(Q42947826)

English

l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation

scientific article published on 7 July 2010

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scholarly article

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Europe PubMed Central

PubMed publication ID

11 November 2017

l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

11 November 2017

AGAT deficiency

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based on heuristic

inferred from title

5

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PubMed publication ID

11 November 2017

author name string

Simon Edvardson

1

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Europe PubMed Central

PubMed publication ID

11 November 2017

Stanley H Korman

2

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11 November 2017

Amir Livne

3

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Europe PubMed Central

PubMed publication ID

11 November 2017

Avraham Shaag

4

1 reference

Europe PubMed Central

PubMed publication ID

11 November 2017

Ruppen Nalbandian

6

1 reference

Europe PubMed Central

PubMed publication ID

11 November 2017

Hyla Allouche-Arnon

7

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Europe PubMed Central

PubMed publication ID

11 November 2017

J Moshe Gomori

8

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Europe PubMed Central

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11 November 2017

Rachel Katz-Brull

9

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11 November 2017

publication date

7 July 2010

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11 November 2017

Molecular Genetics and Metabolism

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11 November 2017

101

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11 November 2017

2-3

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11 November 2017

228-232

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Europe PubMed Central

PubMed publication ID

11 November 2017

Creatine supplementation in health and disease: what is the evidence for long-term efficacy?

1 reference

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7 January 2021

Creatine and creatinine metabolism

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.021

7 January 2021

Reversible brain creatine deficiency in two sisters with normal blood creatine level

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.021

7 January 2021

Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.021

7 January 2021

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.021

7 January 2021

Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.021

7 January 2021

Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.021

7 January 2021

Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.021

7 January 2021

X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.021

7 January 2021

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.021

7 January 2021

Tubular aggregates in skeletal muscle: their functional significance and mechanisms of pathogenesis

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.021

7 January 2021

The origin of tubular aggregates in human myopathies

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.021

7 January 2021

Joint participation of mitochondria and sarcoplasmic reticulum in the formation of tubular aggregates in gastrocnemius muscle of CK-/- mice

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.021

7 January 2021

Tubular aggregates: sarcoplasmic reticulum origin, calcium storage ability, and functional implications

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.021

7 January 2021

Effects of creatine phosphate on Ca2+ regulation by the sarcoplasmic reticulum in mechanically skinned rat skeletal muscle fibres.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.021

7 January 2021

Defective mitochondrial oxidative phosphorylation in myopathies with tubular aggregates originating from sarcoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.021

7 January 2021

Identifiers

10.1016/J.YMGME.2010.06.021

1 reference

Europe PubMed Central

PubMed publication ID

11 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 November 2017

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