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[Metabolic myopathies].
Papazian Ó, Rivas-Chacón R. Papazian Ó, et al. Rev Neurol. 2013 Sep 6;57 Suppl 1:S65-73. Rev Neurol. 2013. PMID: 23897158 Free article. Review. Spanish.
DEVELOPMENT: These metabolic myopathies are autosomic recessive inherited enzymatic deficiencies of the carbohydrates and lipids metabolisms. The end result is a reduction of intra muscle adenosine triphosphate, mainly through mitochondrial oxidative phosphorylation …
DEVELOPMENT: These metabolic myopathies are autosomic recessive inherited enzymatic deficiencies of the carbohydrates and lipids meta …
Tarui disease and distal glycogenoses: clinical and genetic update.
Toscano A, Musumeci O. Toscano A, et al. Acta Myol. 2007 Oct;26(2):105-7. Acta Myol. 2007. PMID: 18421897 Free PMC article. Review.
Studies on phosphofructokinase deficiency vastly enriched the field of glycogen storage diseases, making a relevant improvement also in the molecular genetic area. ...Other glycogenoses have been recognised in the distal part of the glycolytic pathway: these …
Studies on phosphofructokinase deficiency vastly enriched the field of glycogen storage diseases, making a relevant imp …
Metabolic and drug-induced muscle disorders.
Scarlato G, Comi GP. Scarlato G, et al. Curr Opin Neurol. 2002 Oct;15(5):533-8. doi: 10.1097/00019052-200210000-00003. Curr Opin Neurol. 2002. PMID: 12351996 Review.
RECENT FINDINGS: New inherited defects are still being discovered, such as the beta-enolase deficiency in glycogenosis type XIII and mutations in the gene encoding an esterase/lipase/thioesterase protein in Chanarin-Dorfman syndrome, a multisystem triglycerid …
RECENT FINDINGS: New inherited defects are still being discovered, such as the beta-enolase deficiency in glycogenosis …