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Literature DB >> 19625727

Muscle glycogenosis due to phosphoglucomutase 1 deficiency.

Tanya Stojkovic, John Vissing, François Petit, Monique Piraud, Mette C Orngreen, Grete Andersen, Kristl G Claeys, Claire Wary, Jean-Yves Hogrel, Pascal Laforêt.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2009 PMID： 19625727 DOI： 10.1056/NEJMc0901158

Source DB: PubMed Journal: N Engl J Med ISSN： 0028-4793 Impact factor: 91.245

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36 in total

Review 1. A diagnostic algorithm for metabolic myopathies.

Authors: Andres Berardo; Salvatore DiMauro; Michio Hirano
Journal: Curr Neurol Neurosci Rep Date: 2010-03 Impact factor: 5.081

Review 2. Metabolic Myoglobinuria.

Authors: Emanuele Barca; Valentina Emmanuele; Salvatore Billi DiMauro
Journal: Curr Neurol Neurosci Rep Date: 2015-10 Impact factor: 5.081

3. Metabolic myopathies.

Authors: Salvatore DiMauro; Caterina Garone; Ali Naini
Journal: Curr Rheumatol Rep Date: 2010-10 Impact factor: 4.592

Review 4. Neuromuscular disorders of glycogen metabolism.

Authors: Elisabetta Gazzerro; Antoni L Andreu; Claudio Bruno
Journal: Curr Neurol Neurosci Rep Date: 2013-03 Impact factor: 5.081

Review 5. Skeletal muscle disorders of glycogenolysis and glycolysis.

Authors: Richard Godfrey; Ros Quinlivan
Journal: Nat Rev Neurol Date: 2016-05-27 Impact factor: 42.937

6. A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.

Authors: Belén Pérez; Celia Medrano; Maria Jesus Ecay; Pedro Ruiz-Sala; Mercedes Martínez-Pardo; Magdalena Ugarte; Celia Pérez-Cerdá
Journal: J Inherit Metab Dis Date: 2012-09-14 Impact factor: 4.982

Muscle glycogenosis due to phosphoglucomutase 1 deficiency.

Review 1. A diagnostic algorithm for metabolic myopathies.

Review 2. Metabolic Myoglobinuria.

3. Metabolic myopathies.

Review 4. Neuromuscular disorders of glycogen metabolism.

Review 5. Skeletal muscle disorders of glycogenolysis and glycolysis.

6. A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.

7. A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality.

8. Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.

Review 9. Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG.

10. Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.