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Microcephaly and maternal phenylketonuria

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Abbreviations

PKU :

phenylketonuria

References

  1. Gungor N, Tokath A, Coskun T, Özguc M, Özalp I (1996) Microcephaly in a hyperphenylalaninemic infant leading to the diagnosis of maternal hyperphenylalaninemia. Eur J Pediatr 155:257–258

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  2. Superti-Furga A, Steinmann B, Due G, Gitzelmann R (1991) Maternal phenylketonuria in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanin hydroxylase Arg-261-Gln mutation. Eur J Pediatr 150:493–497

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Superti-Furga, A., Steinmann, B., Duc, G. et al. Microcephaly and maternal phenylketonuria. Eur J Pediatr 155, 992 (1996). https://doi.org/10.1007/BF02282896

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  • DOI: https://doi.org/10.1007/BF02282896

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