Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

Author: Battini R.   Leuzzi V.   Carducci C.   Tosetti M.   Bianchi M.C.   Item C.B.   Sto¨ckler-Ipsiroglu S.   Cioni G.  

Publisher: Academic Press

ISSN: 1096-7192

Source: Molecular Genetics and Metabolism, Vol.77, Iss.4, 2002-12, pp. : 326-331

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