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Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report

By Daniela Concolino, Maria Rapsomaniki, Eliana Disabella, Simona Sestito, Maria G Pascale, Maria T Moricca, Giuseppe Bonapace, Elisea Arbustini and Pietro Strisciuglio
Topics: Case report
Publisher: BioMed Central
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Provided by: PubMed Central

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  2. (2006). Desnick RJ: High incidence of later-onset fabry disease revealed by newborn screening.
  3. (2004). Fabry disease in childhood.
  4. (2006). FOS European Investigators: Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey. Acta Paediatr
  5. (2001). Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In The metabolic and molecular bases of inherited disease Edited by: Scriver
  6. (1994). IW: Feeding problems in young PKU children. Acta Paediatr Suppl
  7. (2001). Natural history of Fabry disease in males: preliminary observations.
  8. (2005). The Human Gene Mutation Database [update