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Muscle phosphorylase b kinase deficiency revisited.
Echaniz-Laguna A, Akman HO, Mohr M, Tranchant C, Talmant-Verbist V, Rolland MO, Dimauro S. Echaniz-Laguna A, et al. Among authors: dimauro s. Neuromuscul Disord. 2010 Feb;20(2):125-7. doi: 10.1016/j.nmd.2009.11.004. Epub 2010 Jan 18. Neuromuscul Disord. 2010. PMID: 20080404
Muscle phosphoglycerate mutase deficiency revisited.
Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S. Naini A, et al. Among authors: dimauro s. Arch Neurol. 2009 Mar;66(3):394-8. doi: 10.1001/archneurol.2008.584. Arch Neurol. 2009. PMID: 19273759
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies.
Taratuto AL, Akman HO, Saccoliti M, Riudavets M, Arakaki N, Mesa L, Sevlever G, Goebel H, DiMauro S. Taratuto AL, et al. Among authors: dimauro s. Neuromuscul Disord. 2010 Dec;20(12):783-90. doi: 10.1016/j.nmd.2010.07.275. Epub 2010 Sep 15. Neuromuscul Disord. 2010. PMID: 20833045
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?
Preisler N, Orngreen MC, Echaniz-Laguna A, Laforet P, Lonsdorfer-Wolf E, Doutreleau S, Geny B, Akman HO, Dimauro S, Vissing J. Preisler N, et al. Among authors: dimauro s. Neurology. 2012 Jan 24;78(4):265-8. doi: 10.1212/WNL.0b013e31824365f9. Epub 2012 Jan 11. Neurology. 2012. PMID: 22238410
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?
Ørngreen MC, Schelhaas HJ, Jeppesen TD, Akman HO, Wevers RA, Andersen ST, ter Laak HJ, van Diggelen OP, DiMauro S, Vissing J. Ørngreen MC, et al. Among authors: dimauro s. Neurology. 2008 May 13;70(20):1876-82. doi: 10.1212/01.wnl.0000289190.66955.67. Epub 2008 Apr 9. Neurology. 2008. PMID: 18401027
735 results