The challenges of managing coexistent disorders with phenylketonuria: 30 cases

MacDonald, A.; Ahring, K.; Almeida, M.; Belanger-Quintana, A.; Blau, N.; Burlina, A.; Cleary, M.; Coskum, T.; Dokoupil, K.; Evans, S.; Feillet, F.; Gizewska, M.; Ozel, HÜLYA; Lotz-Havla, A.; Kamienska, E.; Maillot, F.; Lammardo, A.; Muntau, A.; Puchwein-Schwepcke, A.; Robert, M.; Rocha, J.; Santra, S.; Skeath, R.; Straczek, K.; Trefz, F.; van Dam, E.; van Rijn, M.; van Spronsen, F.; Vijay, S.

doi:10.1016/j.ymgme.2015.10.001

The challenges of managing coexistent disorders with phenylketonuria: 30 cases

MacDonald A., Ahring K., Almeida M. F., Belanger-Quintana A., Blau N., Burlina A., ...Daha Fazla

MOLECULAR GENETICS AND METABOLISM, cilt.116, sa.4, ss.242-251, 2015 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 116 Sayı: 4
Basım Tarihi: 2015
Doi Numarası: 10.1016/j.ymgme.2015.10.001
Dergi Adı: MOLECULAR GENETICS AND METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.242-251
Hacettepe Üniversitesi Adresli: Evet

Özet

Introduction: 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 cohort study.