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Mitochondrial Acetoacetyl-CoA Thiolase (T2) Deficiency: T2-Deficient Patients with “Mild” Mutation(s) Were Previously Misinterpreted as Normal by the Coupled Assay with Tiglyl-CoA
Zhang, Gai Xiu, Fukao, Toshiyuki, Rolland, Marie-Odile, Zabot, Marie-Therese, Renom, Gilles, Touma, Elias, Kondo, Masashi, Matsuo, Naoki, Kondo, NaomiVolume:
56
Language:
english
Journal:
Pediatric Research
DOI:
10.1203/01.PDR.0000129657.48122.52
Date:
July, 2004
File:
PDF, 265 KB
english, 2004