{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T10:10:04Z","timestamp":1778148604396,"version":"3.51.4"},"reference-count":0,"publisher":"IOS Press","isbn-type":[{"value":"9781643686608","type":"electronic"}],"license":[{"start":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T00:00:00Z","timestamp":1778112000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,7]]},"abstract":"<jats:p>Background: Phenylketonuria (PKU) management requires weekly blood phenylalanine (Phe) monitoring. Due to the lack of point-of-care (PoC) home devices, reliance on specialized metabolic laboratories (SML) causes fragmented stakeholder communication. Objectives: Aiming to bridge fragmented PKU management, we designed a platform connecting SML diagnostics, clinicians, and home-monitoring. Methods: GenKom-PKU was developed as a browser-based platform to enable integrated patient data visualization and streamlined stakeholder communication. Results: Featuring clinician and patient dashboards for Phe-monitoring and dietetic communication, alpha-testing (n =12) confirmed technical feasibility and efficient data integration. Conclusion: This approach effectively bridges the gap between SML and patient-centered home care for rare diseases lacking PoC devices but requiring high analytical precision and clinical assessment.<\/jats:p>","DOI":"10.3233\/shti260058","type":"book-chapter","created":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T09:11:21Z","timestamp":1778145081000},"source":"Crossref","is-referenced-by-count":0,"title":["GenKom-PKU: Improving Patient-Provider Communication in Phenylketonuria"],"prefix":"10.3233","author":[{"given":"Moritz","family":"Henninger","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"H\u00f6ller","sequence":"additional","affiliation":[{"name":"Division of Nutrition and Dietetics, University Hospital Innsbruck, Innsbruck, Austria"},{"name":"Institute of Public Health, Medical Decision Making and Health Technology Assessment, Department of Public Health, Health Services Research and Health Technology Assessment, UMIT TIROL-University for Health Sciences and Technology, Hall in Tirol, Austria"},{"name":"Digital Health Information Systems, Center for Health & Bioresources, AIT Austrian Institute of Technology, Graz, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Karall","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I, Inherited Metabolic Disorders, University Hospital Innsbruck, Innsbruck, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Scholl-B\u00fcrgi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I, Inherited Metabolic Disorders, University Hospital Innsbruck, Innsbruck, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Zschocke","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus A.","family":"Keller","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7437","container-title":["Studies in Health Technology and Informatics","dHealth 2026"],"original-title":[],"link":[{"URL":"https:\/\/ebooks.iospress.nl\/pdf\/doi\/10.3233\/SHTI260058","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T09:11:21Z","timestamp":1778145081000},"score":1,"resource":{"primary":{"URL":"https:\/\/ebooks.iospress.nl\/doi\/10.3233\/SHTI260058"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,7]]},"ISBN":["9781643686608"],"references-count":0,"URL":"https:\/\/doi.org\/10.3233\/shti260058","relation":{},"ISSN":["0926-9630","1879-8365"],"issn-type":[{"value":"0926-9630","type":"print"},{"value":"1879-8365","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,7]]}}}