Health-related quality of life in a european sample of adults with early-treated classical PKU.

Autor: Maissen-Abgottspon S; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Muri R; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Support Center for Advanced Neuroimaging (SCAN), Institute of Diagnostic and Interventional Neuroradiology, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland., Hochuli M; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Reismann P; Department of Internal Medicine and Oncology, Semmelweis University, Budapest, Hungary., Barta AG; Department of Internal Medicine and Oncology, Semmelweis University, Budapest, Hungary., Alptekin IM; Faculty of Health Sciences, Department of Nutrition and Dietetics, Ankara University, Ankara, Turkey., Hermida-Ameijeiras Á; Division of Internal Medicine, European Reference Network for Hereditary Metabolic Disorders (MetabERN), University Clinical Hospital, Santiago de Compostela, Spain., Burlina AP; Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy., Burlina AB; Division of Inborn Metabolic Diseases, Department of Pediatrics, University Hospital, Padua, Italy., Cazzorla C; Division of Inborn Metabolic Diseases, Department of Pediatrics, University Hospital, Padua, Italy., Carretta J; Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy., Trepp R; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Everts R; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. regula.everts@insel.ch.; Division of Neuropediatrics, Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. regula.everts@insel.ch.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Sep 22; Vol. 18 (1), pp. 300. Date of Electronic Publication: 2023 Sep 22.

Reduced macular thickness and macular vessel density in early-treated adult patients with PKU.

Autor: Serfozo C; Department of Ophthalmology, Faculty of Medicine, Semmelweis University, Maria street 39, 1085 Budapest, Hungary.; Department of Ophthalmology, Heim Pal Children's Hospital, Ulloi street 86, 1089 Budapest, Hungary., Barta AG; Department of Internal Medicine and Oncology, Faculty of Medicine, Semmelweis University, Koranyi Sandor street 2/a, 1083 Budapest, Hungary., Horvath E; Independent Statistician, Alsódabas str. 4/2, 1171 Budapest, Hungary., Sumanszki C; Department of Internal Medicine and Oncology, Faculty of Medicine, Semmelweis University, Koranyi Sandor street 2/a, 1083 Budapest, Hungary., Csakany B; Department of Ophthalmology, Faculty of Medicine, Semmelweis University, Maria street 39, 1085 Budapest, Hungary., Resch M; Department of Ophthalmology, Faculty of Medicine, Semmelweis University, Maria street 39, 1085 Budapest, Hungary., Nagy ZZ; Department of Ophthalmology, Faculty of Medicine, Semmelweis University, Maria street 39, 1085 Budapest, Hungary., Reismann P; Department of Internal Medicine and Oncology, Faculty of Medicine, Semmelweis University, Koranyi Sandor street 2/a, 1083 Budapest, Hungary.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 May 05; Vol. 27, pp. 100767. Date of Electronic Publication: 2021 May 05 (Print Publication: 2021).

Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire.

Autor: Barta AG; 2 Department of Internal Medicine, Semmelweis University,Szentkirályi street 46, Budapest 1088, Hungary., Sumánszki C; 2 Department of Internal Medicine, Semmelweis University,Szentkirályi street 46, Budapest 1088, Hungary., Turgonyi Z; Faculty of Medicine, Semmelweis University, Üllői út 26, Budapest 1085, Hungary., Kiss E; 1 Department of Pediatrics, Semmelweis University, Bokay J. street 53-54, Budapest 1083, Hungary., Simon E; 1 Department of Pediatrics, Semmelweis University, Bokay J. street 53-54, Budapest 1083, Hungary., Serfőző C; Department of Ophthalmology, Semmelweis University, Mária street 39, Budapest 1085, Hungary., Reismann P; 2 Department of Internal Medicine, Semmelweis University,Szentkirályi street 46, Budapest 1088, Hungary.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 Apr 22; Vol. 23, pp. 100589. Date of Electronic Publication: 2020 Apr 22 (Print Publication: 2020).

[Adult phenylketonuria].

Autor: Sumánszki C; II. Belgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Szentkirályi u. 46., 1084., Barta AG; II. Belgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Szentkirályi u. 46., 1084., Reismann P; II. Belgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Szentkirályi u. 46., 1084.

Publikováno v: Orvosi hetilap [Orv Hetil] 2017 Nov; Vol. 158 (47), pp. 1857-1863.