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Meta-analysis of bone mineral density in adults with phenylketonuria Rocha, Julio C.; Hermida, Alvaro; Jones, Cheryl J.; Wu, Yunchou; Clague, Gillian E.; Rose, Sarah; Whitehall, Kaleigh B.; Ahring, Kirsten K.; Pessoa, Andre L. S.; Harding, Cary O.; Rohr, Fran; Inwood, Anita; Longo, Nicola; Muntau, Ania C.; Sivri, Serap; Maillot, Francois 分享 收藏
Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity Pinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Belanger-Quintana, Amaya; Burlina, Alberto; Coskun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, Francois; Gizewska, Maria; Gokmen-Ozel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Lesniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michal; Rocha, Julio Cesar; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Straczek, Kamilla; Tokatli, Aysegul; MacDonald, Anita 分享 收藏
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria Whitehall, Kaleigh B.; Rose, Sarah; Clague, Gillian E.; Ahring, Kirsten K.; Bilder, Deborah A.; Harding, Cary O.; Hermida, Alvaro; Inwood, Anita; Longo, Nicola; Maillot, Francois; Muntau, Ania C.; Pessoa, Andre L. S.; Rocha, Julio C.; Rohr, Fran; Sivri, Serap; Said, Jack; Oshinbolu, Sheun; Sibbring, Gillian C. 分享 收藏
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape? 来自欧洲2012年和2018的苯丙酮尿症患者的血苯丙氨酸水平: 这是一个变化的景观吗？ Pinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Belanger-Quintana, Amaya; Burlina, Alberto; Coskun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, Francois; Gizewska, Maria; Goekmen-oezel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Lesniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michal; Rocha, Julio Cesar; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Straczek, Kamilla; Tokatli, Ayseguel; Macdonald, Anita 分享 收藏
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Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria 医学营养治疗长期有效性及其对成人苯丙酮尿症结局影响的专家共识 Rocha, Julio Cesar; Ahring, Kirsten K.; Bausell, Heather; Bilder, Deborah A.; Harding, Cary O.; Inwood, Anita; Longo, Nicola; Muntau, Ania C.; Pessoa, Andre L. Santos; Rohr, Fran; Sivri, Serap; Hermida, Alvaro 分享 收藏
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Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach Burton, Barbara K.; Hermida, Alvaro; Belanger-Quintana, Amaya; Bell, Heather; Bjoraker, Kendra J.; Christ, Shawn E.; Grant, Mitzie L.; Harding, Cary O.; Huijbregts, Stephan C. J.; Longo, Nicola; McNutt, Markey C. I. I. I. I.; Nguyen-Driver, Mina D.; Pessoa, Andre L. Santos; Rocha, Julio Cesar; Sacharow, Stephanie; Sanchez-Valle, Amarilis; Sivri, H. Serap; Vockley, Jerry; Walterfang, Mark; Whittle, Sarah; Muntau, Ania C. 分享 收藏
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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines Huebschmann, Oya Kuseyri; Horvath, Gabriella; Cortes-Saladelafont, Elisenda; Yildiz, Yilmaz; Mastrangelo, Mario; Pons, Roser; Friedman, Jennifer; Mercimek-Andrews, Saadet; Wong, Suet-Na; Pearson, Toni S.; Zafeiriou, Dimitrios, I; Kulhanek, Jan; Kurian, Manju A.; Lopez-Laso, Eduardo; Oppeboen, Mari; Kilavuz, Sebile; Wassenberg, Tessa; Goez, Helly; Scholl-Buergi, Sabine; Porta, Francesco; Honzik, Tomas; Santer, Rene; Burlina, Alberto; Sivri, H. Serap; Leuzzi, Vincenzo; Hoffmann, Georg F.; Jeltsch, Kathrin; Huebschmann, Daniel; Garbade, Sven F.; Garcia-Cazorla, Angeles; Opladen, Thomas 分享 收藏
DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant (May, 10.1007/s11011-021-00753-0, 2021) ciki, Kismet; Yildiz, Yilmaz; Yucel Yilmaz, Didem; Pektas, Emine; Tokatli, Aysegul; ozgul, R. Koksal; Sivri, H. Serap; Dursun, Ali 分享 收藏
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Polysomnography findings in children with Mucopolysaccharidoses Tural, Dilber Ademhan; Ozsezen, Beste; Sunman, Birce; Ipek, Omer Faruk; Kilic, Kubra; Emiralioglu, Nagehan; Yalcin, Ebru; Dogru, Deniz; Kiper, Nural; Sivri, Serap; Ozcelik, Ugur 分享 收藏
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (vol 15, 126, 2020) Opladen, Thomas; Lopez-Laso, Eduardo; Cortes-Saladelafont, Elisenda; Pearson, Toni S.; Sivri, H. Serap; Yildiz, Yilmaz; Assmann, Birgit; Kurian, Manju A.; Leuzzi, Vincenzo; Heales, Simon; Pope, Simon; Porta, Francesco; Garcia-Cazorla, Angeles; Honzik, Tomas; Pons, Roser; Regal, Luc; Goez, Helly; Artuch, Rafael; Hoffmann, Georg F.; Horvath, Gabriella; Thoeny, Beat; Scholl-Buergi, Sabine; Burlina, Alberto; Verbeek, Marcel M.; Mastrangelo, Mario; Friedman, Jennifer; Wassenberg, Tessa; Jeltsch, Kathrin; Kulhanek, Jan; Kuseyri Huebschmann, Oya 分享 收藏
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Presenting signs and symptoms of MPS: Results of an international physician survey Mitchell, John; Clarke, Lorne; Ellaway, Carolyn; Foster, Helen; Giugliani, Roberto; Goizet, Cyril; Goring, Sarah; Hawley, Sara M.; Jurecki, Elaina; Khan, Zaeem; Lampe, Christina; Martini, Ken; McMullen, Suzanne; Mubarackh, Fathima; Muenzer, Joseph; Sivri, H. Serap; Stewart, Fiona J.; Tylki-Szymanska, Anna; White, Klane; Wijburg, Frits 分享 收藏
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