Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffre B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

Neurology 63:1053-8 (2004)
DOI:10.1212/01.WNL.0000138429.11433.0D