Project “Backtoclinic I”: An overview on the state of care of adult PKU patients in Austria-Reference-Cited by-同舟云学术

Project “Backtoclinic I”: An overview on the state of care of adult PKU patients in Austria

Published:2021-07 Issue:3 Volume:133 Page:257-260
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Beghini Marianna,Resch Felix J.,Möslinger Dorothea,Konstantopoulou Vassiliki,Karall Daniela,Scholl-Bürgi Sabine,Brunner-Krainz Michaela,Plecko Barbara,Spenger Johannes,Kautzky-Willer Alexandra,Scherer Thomas,Hufgard-Leitner Miriam

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference17 articles.

1. Neonatal screening in Europe; the situation in 2004;Loeber;J. Inherit. Metab. Dis.,2007

2. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants;Guthrie;Pediatrics,1963

3. The National Austrian Newborn Screening Program – eight years experience with mass spectrometry. Past, present, and future goals;Kasper;Wien. Klin. Wochenschr.,2010

4. Newborn screening 50 years later: access issues faced by adults with PKU;Berry;Genet. Med.,2013

5. Phenylketonuria scientific review conference: state of the science and future research needs;Camp;Mol. Genet. Metab.,2014

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1. Poor adherence during adolescence is a risk factor for becoming lost-to-follow-up in patients with phenylketonuria;Molecular Genetics and Metabolism Reports;2024-06

2. Adult PKU Clinics in the UK—Users’ Experiences and Perspectives;Nutrients;2023-10-12

3. Health-related quality of life in a european sample of adults with early-treated classical PKU;Orphanet Journal of Rare Diseases;2023-09-22

4. Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria;Nutrients;2023-09-11

5. Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion;Journal of Neurology;2023-04-20