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Guide for diagnosis and treatment of hyperphenylalaninemia.

Haruo ShintakuToshihiro OhuraMasaki TakayanagiShigeo KureMisao OwadaYoichi MatsubaraMakoto YoshinoYoshiyuki OkanoTetsuya ItoTorayuki OkuyamaKimitoshi NakamuraMasafumi MatuoFumio EndoHiroyuki Ida
Published in: Pediatrics international : official journal of the Japan Pediatric Society (2021)
If tetrahydrobiopterin-responsive hyperphenylalaninemia is diagnosed, all ages can be treated with sapropterin hydrochloride. Although there are reports that sapropterin hydrochloride is effective and safe for the prevention of maternal phenylketonuria, further investigation is required.
Keyphrases
  • birth weight
  • cancer therapy
  • pregnancy outcomes
  • adverse drug
  • drug delivery
  • body mass index
  • physical activity
  • gestational age
  • weight gain