The challenges of managing coexistent disorders with phenylketonuria: 30 cases

The few published case reports of co-existent disease with phenylketonuria (PKU) are mainly genetic and familial conditions from consanguineous marriages. The clinical and demographic features of 30 subjects with PKU and co-existent conditions were described in this multi-centre, retrospective cohor...

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Veröffentlicht in:	Molecular genetics and metabolism 2015-12, Vol.116 (4), p.242-251
Hauptverfasser:	MacDonald, A., Ahring, K., Almeida, M.F., Belanger-Quintana, A., Blau, N., Burlina, A., Cleary, M., Coskum, T., Dokoupil, K., Evans, S., Feillet, F., Giżewska, M., Gokmen Ozel, H., Lotz-Havla, A.S., Kamieńska, E., Maillot, F., Lammardo, A.M., Muntau, A.C., Puchwein-Schwepcke, A., Robert, M., Rocha, J.C., Santra, S., Skeath, R., Strączek, K., Trefz, F.K., van Dam, E., van Rijn, M., van Spronsen, F., Vijay, S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Autoimmune Diseases - blood Autoimmune Diseases - complications Autoimmune Diseases - diagnosis Autoimmune Diseases - therapy Biopterins - analogs & derivatives Biopterins - therapeutic use Child Child, Preschool Chromosome Aberrations Co-existent Consanguinity Diet Disease Management Europe Female Gastrointestinal Diseases - blood Gastrointestinal Diseases - complications Gastrointestinal Diseases - diagnosis Gastrointestinal Diseases - therapy Humans Infant Life Sciences Male Phenylalanine Phenylalanine - blood Phenylketonuria Phenylketonurias - blood Phenylketonurias - complications Phenylketonurias - diagnosis Phenylketonurias - therapy Pregnancy Retrospective Studies Sapropterin Turkey
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