Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways (Q42959565)

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scientific article published on 6 July 2010

Language	Label	Description	Also known as
English	Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways	scientific article published on 6 July 2010

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scholarly article

1 reference

Europe PubMed Central

11 November 2017

Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways (English)

1 reference

Europe PubMed Central

11 November 2017

author name string

Charles R Roe

1

1 reference

Europe PubMed Central

11 November 2017

Teodoro Bottiglieri

2

1 reference

Europe PubMed Central

11 November 2017

Mary Wallace

3

1 reference

Europe PubMed Central

11 November 2017

Erland Arning

4

1 reference

Europe PubMed Central

11 November 2017

Alan Martin

5

1 reference

Europe PubMed Central

11 November 2017

publication date

6 July 2010

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Europe PubMed Central

11 November 2017

Molecular Genetics and Metabolism

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Europe PubMed Central

11 November 2017

101

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Europe PubMed Central

11 November 2017

2-3

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Europe PubMed Central

11 November 2017

246-252

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Europe PubMed Central

11 November 2017

Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.017

7 January 2021

A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora'

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.017

7 January 2021

Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.017

7 January 2021

Adult polyglucosan body disease: a case report of a manifesting heterozygote

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.017

7 January 2021

Polyglucosan body myopathy: a new case

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7 January 2021

Rapid high-performance liquid chromatographic assay for total homocysteine levels in human serum

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Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.017

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Determination of choline, betaine, and dimethylglycine in plasma by a high-throughput method based on normal-phase chromatography-tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.017

7 January 2021

Regulation of glycogen synthase by glucose and glycogen: a possible role for AMP-activated protein kinase

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.017

7 January 2021

Constitutive activation of GSK3 down-regulates glycogen synthase abundance and glycogen deposition in rat skeletal muscle cells.

1 reference

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Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.017

7 January 2021

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.017

7 January 2021

Anaplerotic molecules: current and future

1 reference

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7 January 2021

Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.017

7 January 2021

Folate and methylation status in relation to phosphorylated tau protein(181P) and beta-amyloid(1-42) in cerebrospinal fluid.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.017

7 January 2021

Choline: critical role during fetal development and dietary requirements in adults

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.017

7 January 2021

Management of cellular energy by the AMP-activated protein kinase system

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.017

7 January 2021

Identifiers

10.1016/J.YMGME.2010.06.017

1 reference

Europe PubMed Central

11 November 2017

1 reference

Europe PubMed Central

11 November 2017

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