Lipid storage myopathies
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical),Neurology
Reference38 articles.
1. Disorders of lipid metabolism;Di Donato,2004
2. Disorders of carnitine transport and the carnitine cycle;Longo;Am J Med Genet C Semin Med Genet,2006
3. Pharmacological rescue of carnitine transport in primary carnitine deficiency;Amat di San Filippo;Hum Mutat,2006
4. Muscle carnitine palmityltransferase deficiency and myoglobinuria;DiMauro;Science,1973
5. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects;Bonnefont;Mol Aspects Med,2004
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