Glycogen Storage Disease Type 7 Latest Advances

Reporting a Novel Gene Mutation in Glycogen Storage Disease Type VII (Tarui Disease).

Journal: Annals of Indian Academy of Neurology

Published: July 19, 2024

Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII.

Journal: Frontiers in genetics

Published: April 24, 2024

Tarui Disease Caused by a Novel PFKM Genetic Variant in a Sub-Saharan African Patient.

Journal: Journal of clinical neuromuscular disease

Published: February 21, 2022

Erratum to ``Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group'' [Neuromuscular Disorders 31 (2021) 1296-1310].

Journal: Neuromuscular disorders : NMD

Published: February 10, 2022

Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group.

Journal: Neuromuscular disorders : NMD

Published: October 12, 2021

The potential of a ketogenic diet to minimize effects of the metabolic fault in glycogen storage disease V and VII.

Journal: Current opinion in endocrinology, diabetes, and obesity

Published: August 11, 2020

Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII).

Journal: Frontiers in neurology

Published: October 18, 2019

Exercise efficiency impairment in metabolic myopathies.

Journal: Scientific reports

Published: October 04, 2019

Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone.

Journal: Frontiers in neurology

Published: November 14, 2018

My Diagnostic Odyssey-A Call to Expand Access to Genomic Testing for the Next Generation.

Journal: The Hastings Center report

Published: August 23, 2018

Metabolic Myopathies.

Journal: Continuum (Minneapolis, Minn.)

Published: December 07, 2016

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease.

Journal: Frontiers in neurology

Published: March 14, 2016

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Reporting a Novel Gene Mutation in Glycogen Storage Disease Type VII (Tarui Disease).

Reporting a Novel Gene Mutation in Glycogen Storage Disease Type VII (Tarui Disease).

Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII.

Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII.

Tarui Disease Caused by a Novel PFKM Genetic Variant in a Sub-Saharan African Patient.

Tarui Disease Caused by a Novel PFKM Genetic Variant in a Sub-Saharan African Patient.

Erratum to ``Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group'' [Neuromuscular Disorders 31 (2021) 1296-1310].

Erratum to ``Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group'' [Neuromuscular Disorders 31 (2021) 1296-1310].

Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group.

Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group.

The potential of a ketogenic diet to minimize effects of the metabolic fault in glycogen storage disease V and VII.

The potential of a ketogenic diet to minimize effects of the metabolic fault in glycogen storage disease V and VII.

Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII).

Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII).

Exercise efficiency impairment in metabolic myopathies.

Exercise efficiency impairment in metabolic myopathies.

Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone.

Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone.

My Diagnostic Odyssey-A Call to Expand Access to Genomic Testing for the Next Generation.

My Diagnostic Odyssey-A Call to Expand Access to Genomic Testing for the Next Generation.

Metabolic Myopathies.

Metabolic Myopathies.

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease.

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease.