{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,25]],"date-time":"2025-12-25T05:21:22Z","timestamp":1766640082630,"version":"3.48.0"},"reference-count":52,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T00:00:00Z","timestamp":1766361600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002809","name":"Generalitat of Catalunya","doi-asserted-by":"crossref","award":["2021SGR01423"],"award-info":[{"award-number":["2021SGR01423"]}],"id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background\/Objectives: Inborn errors of metabolism (IEM) are chronic, life-threatening genetic disorders with a significant cumulative prevalence worldwide. Advances in early diagnosis and treatment have significantly increased life expectancy, underscoring the need for specialised adult care units and the establishment of structured transition programmes from paediatric to adult services. We hereby present a functional transition model for IEM patients and share our implementation experience. Methods: Initiated in 2012, the partnership between the paediatric Hospital Sant Joan de D\u00e9u (HSJD) and the adult-care centre at Hospital Clinic of Barcelona (HCB) culminated in 2019 with the transference of the first IEM patients under the structured A10! Programme. This model is structured around the transition units of paediatric and adult centres to guarantee communication and functional management. Regular monthly meetings at each centre and joint quarterly sessions allowed for protocol harmonisation and personalised care planning. Coordinated engagement of the multidisciplinary health care teams with patients and families smoothed the transfer process. Results: Between 2019 and 2024, 94 IEM patients were successfully transferred. Diagnoses included intermediary metabolism defects (71.23%), lipid metabolism and transport disorders (4.25%), heterocyclic compound metabolism (2.12%), complex molecules and organelle dysfunction (6.37%), cofactor and mineral metabolism (2.12%), signalling defects (5.31%), and unclassified cases (8.51% of rare disorders, maybe non-IEM). Transition formats included 21 in-person joint visits in HSJD, 37 remote transitions during the COVID-19 pandemic, and 36 streamlined transfers via standardised protocols. Sessions, trainings, and meetings allowed the exchange of patients\u2019 needs and protocols. Conclusions: The successful transference of IEM patients requires structured programmes with interdisciplinary paediatric and adult teams, joining efforts with the patient, families, and caregivers. Communication between paediatric and adult transition units is essential to promote continuity of care and patient empowerment. While constantly updated, this model has proven effective, gaining positive evaluations from healthcare professionals and patients alike, representing a scalable framework for lifelong management of IEM in adult care settings.<\/jats:p>","DOI":"10.3390\/jcm15010081","type":"journal-article","created":{"date-parts":[[2025,12,24]],"date-time":"2025-12-24T16:41:19Z","timestamp":1766594479000},"page":"81","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience"],"prefix":"10.3390","volume":"15","author":[{"given":"Aida","family":"Deudero","sequence":"first","affiliation":[{"name":"Inherited Metabolic Diseases and Muscular Disorders\u2019 Research Laboratory, Centre de Recerca Biom\u00e8dica CELLEX, Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-1905-0032","authenticated-orcid":false,"given":"Esther","family":"Lasheras","sequence":"additional","affiliation":[{"name":"Transition Area, Quality Department, Hospital Sant Joan de D\u00e9u, 08950 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roser","family":"Ventura","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-3917-0334","authenticated-orcid":false,"given":"Cristina","family":"Montserrat-Carbonell","sequence":"additional","affiliation":[{"name":"Endocrinology Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 C\u00e9sar","family":"Milisenda","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Diseases and Muscular Disorders\u2019 Research Laboratory, Centre de Recerca Biom\u00e8dica CELLEX, Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona, 08036 Barcelona, Spain"},{"name":"Internal Medicine Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Juli\u00e1-Palacios","sequence":"additional","affiliation":[{"name":"Transition Area, Quality Department, Hospital Sant Joan de D\u00e9u, 08950 Barcelona, Spain"},{"name":"Metabolic Diseases Unit, Department of Neurology, Hospital Sant Joan de D\u00e9u and MetabERN, 08950 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9184-8079","authenticated-orcid":false,"given":"Ana","family":"Matas","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Diseases and Muscular Disorders\u2019 Research Laboratory, Centre de Recerca Biom\u00e8dica CELLEX, Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona, 08036 Barcelona, Spain"},{"name":"Internal Medicine Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda de Tall\u00f3","family":"Forga-Visa","sequence":"additional","affiliation":[{"name":"Endocrinology Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa Mar\u00eda","family":"L\u00f3pez-Galera","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain"},{"name":"Division of Inborn Errors of Metabolism-IBC, Biochemical and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2132-4138","authenticated-orcid":false,"given":"Judit","family":"Garc\u00eda-Villoria","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain"},{"name":"Division of Inborn Errors of Metabolism-IBC, Biochemical and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merc\u00e8","family":"Placeres","sequence":"additional","affiliation":[{"name":"Pharmacy Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7810-1827","authenticated-orcid":false,"given":"Adriana","family":"Pan\u00e9","sequence":"additional","affiliation":[{"name":"Endocrinology Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8973-9933","authenticated-orcid":false,"given":"Gl\u00f2ria","family":"Garrabou","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Diseases and Muscular Disorders\u2019 Research Laboratory, Centre de Recerca Biom\u00e8dica CELLEX, Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona, 08036 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2249-246X","authenticated-orcid":false,"given":"Antonia","family":"Ribes","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain"},{"name":"Division of Inborn Errors of Metabolism-IBC, Biochemical and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesc","family":"Cardellach","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Diseases and Muscular Disorders\u2019 Research Laboratory, Centre de Recerca Biom\u00e8dica CELLEX, Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona, 08036 Barcelona, Spain"},{"name":"Internal Medicine Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5501-5272","authenticated-orcid":false,"given":"Pedro Juan","family":"Moreno-Lozano","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Diseases and Muscular Disorders\u2019 Research Laboratory, Centre de Recerca Biom\u00e8dica CELLEX, Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona, 08036 Barcelona, Spain"},{"name":"Internal Medicine Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c0ngels","family":"Garcia-Cazorla","sequence":"additional","affiliation":[{"name":"Transition Area, Quality Department, Hospital Sant Joan de D\u00e9u, 08950 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain"},{"name":"Metabolic Diseases Unit, Department of Neurology, Hospital Sant Joan de D\u00e9u and MetabERN, 08950 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaume","family":"Campistol","sequence":"additional","affiliation":[{"name":"Transition Area, Quality Department, Hospital Sant Joan de D\u00e9u, 08950 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain"},{"name":"Metabolic Diseases Unit, Department of Neurology, Hospital Sant Joan de D\u00e9u and MetabERN, 08950 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"IEM-SJD-HCB Consortia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,12,22]]},"reference":[{"doi-asserted-by":"crossref","unstructured":"Degraeuwe, E., Turner, M.A., Fernandes, R.M., Raes, A., Vande Walle, J., and Schaefer, F. (2025). Mapping the rare disease paediatric clinical trial availabilities in Europe. Front. Pediatr., 13.","key":"ref_1","DOI":"10.3389\/fped.2025.1523847"},{"unstructured":"(2025, October 31). IEMbase. Available online: http:\/\/iembase.org\/.","key":"ref_2"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.medcli.2010.01.021","article-title":"Enfermedades raras y el especialista en Medicina Interna","volume":"134","author":"Grau","year":"2010","journal-title":"Med. Clin."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/jimd.12348","article-title":"An international classification of inherited metabolic disorders (ICIMD)","volume":"44","author":"Ferreira","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"unstructured":"(2025, October 31). Metab\u00f3licas SJD Hospital Barcelona. Clasificaci\u00f3n Internacional de Enfermedades Metab\u00f3licas Hereditarias. Available online: https:\/\/metabolicas.sjdhospitalbarcelona.org\/clasificacion-internacional-enfermedades-metabolicas-hereditarias-icimd46.","key":"ref_5"},{"doi-asserted-by":"crossref","unstructured":"Mazzucato, M., Dalla Pozza, L.V., Minichiello, C., Manea, S., Barbieri, S., Toto, E., Vianello, A., and Facchin, P. (2018). The epidemiology of transition into adulthood of rare diseases patients: Results from a population-based registry. Int. J. Environ. Res. Public Health, 15.","key":"ref_6","DOI":"10.3390\/ijerph15102212"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1186\/s13023-021-01948-5","article-title":"Social and medical needs of rare metabolic patients: Results from a MetabERN survey","volume":"16","author":"Sestini","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_8","first-page":"e2223","article-title":"Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China","volume":"11","author":"Men","year":"2023","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"e10","DOI":"10.1542\/peds.105.1.e10","article-title":"Incidence of inborn errors of metabolism in British Columbia, 1969\u20131996","volume":"105","author":"Applegarth","year":"2000","journal-title":"Pediatrics"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1136\/adc.2005.091637","article-title":"The incidence of inherited metabolic disorders in the West Midlands, UK","volume":"91","author":"Sanderson","year":"2006","journal-title":"Arch. Dis. Child."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"021102","DOI":"10.7189\/jogh.08.021102","article-title":"Global birth prevalence and mortality from inborn errors of metabolism: A systematic analysis of the evidence","volume":"8","author":"Waters","year":"2018","journal-title":"J. Glob. Health"},{"key":"ref_12","first-page":"3","article-title":"Errores innatos del metabolismo. Avances en el diagn\u00f3stico y terap\u00e9utica","volume":"83","author":"Campistol","year":"2023","journal-title":"Medicina"},{"doi-asserted-by":"crossref","unstructured":"Stepien, K.M., Kie\u0107-Wilk, B., Lampe, C., Tangeraas, T., Cefalo, G., Belmatoug, N., Francisco, R., del Toro, M., Wagner, L., and Lauridsen, A.-G. (2021). Challenges in Transition from Childhood to Adulthood Care in Rare Metabolic Diseases: Results from the First Multi-Centre European Survey. Front. Med., 8.","key":"ref_13","DOI":"10.3389\/fmed.2021.652358"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1007\/s00063-005-1086-1","article-title":"Erwachsene mit angeborenen stoffwechselkrankheiten. Eine neue Herausforderung f\u00fcr die innere Medizin (Teil 1)","volume":"100","author":"Schwarz","year":"2005","journal-title":"Med. Klin."},{"key":"ref_15","first-page":"15","article-title":"Las enfermedades raras y su impacto en la gesti\u00f3n de los servicios de salud","volume":"6","year":"2008","journal-title":"Rev. Adm. Sanit."},{"key":"ref_16","first-page":"45","article-title":"Practical recommendations for the transition to adulthood for the adolescent with a genetic diagnosis. Special emphasis on inborn errors of metabolism","volume":"4","author":"Turner","year":"2019","journal-title":"Transl. Sci. Rare Dis."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"103947","DOI":"10.1016\/j.ejmg.2019.103818","article-title":"Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services","volume":"63","author":"Suddaby","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/1054-139X(95)00073-2","article-title":"Transition to adult health care: Setting the stage","volume":"17","author":"Blum","year":"1995","journal-title":"J. Adolesc. Health"},{"key":"ref_19","first-page":"e71","article-title":"Experiencia en el proceso de transici\u00f3n de pacientes con enfermedad neuromuscular","volume":"115","author":"Greif","year":"2017","journal-title":"Arch. Argent. Pediatr."},{"key":"ref_20","first-page":"56","article-title":"Transici\u00f3n en la atenci\u00f3n m\u00e9dica, de la pediatr\u00eda a la medicina del adulto","volume":"110","year":"2012","journal-title":"Arch. Argent. Pediatr."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"789","DOI":"10.3989\/arbor.2018.789n3002","article-title":"Medicina interna y enfermedades raras. Transici\u00f3n ni\u00f1o-adulto","volume":"194","author":"Cardellach","year":"2018","journal-title":"Arbor"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1542\/peds.110.S3.1307","article-title":"Health care transition: Destinations unknown","volume":"110","author":"Reiss","year":"2002","journal-title":"Pediatrics"},{"key":"ref_23","first-page":"16","article-title":"La transici\u00f3n del cuidado en el paciente cr\u00f3nico: El largo camino de un hospital pedi\u00e1trico a un hospital de adultos","volume":"16","author":"Ugo","year":"2009","journal-title":"Med. Infant."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1765","DOI":"10.4187\/respcare.08260","article-title":"Transition from pediatric to adult care for young adults with chronic respiratory disease","volume":"65","author":"Willis","year":"2020","journal-title":"Respir. Care"},{"key":"ref_25","first-page":"1619","article-title":"Transition and transfer from pediatric to adult congenital heart disease care in Canada: Call for strategic implementation","volume":"35","author":"Mackie","year":"2019","journal-title":"Can. J. Cardiol."},{"key":"ref_26","first-page":"735","article-title":"Transition of young adults with phenylketonuria from pediatric to adult care","volume":"34","author":"Roth","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1007\/s10545-008-0918-6","article-title":"The truth of treating patients with phenylketonuria after childhood: The need for a new guideline","volume":"31","author":"Spronsen","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1136\/adc.2003.045377","article-title":"The adolescent with a chronic condition. Part II: Healthcare provision","volume":"89","author":"Michaud","year":"2004","journal-title":"Arch. Dis. Child."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1023\/A:1015602601091","article-title":"Growing older: The adult metabolic clinic","volume":"25","author":"Lee","year":"2002","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"S64","DOI":"10.1016\/j.ymgme.2009.09.015","article-title":"Outcomes beyond phenylalanine: An international perspective","volume":"99","author":"Feillet","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"ref_31","first-page":"132","article-title":"Evaluation of patients\u2019 opinions and metabolic control after transfer of young adults with type 1 diabetes from a pediatric diabetes clinic to adult care","volume":"67","author":"Busse","year":"2007","journal-title":"Horm. Res."},{"doi-asserted-by":"crossref","unstructured":"Peres, M., Almeida, M.F., Pinto, \u00c9.J., Carmona, C., Rocha, S., Guimas, A., Ribeiro, R., Martins, E., Bandeira, A., and MacDonald, A. (2021). Implementing a transition program from paediatric to adult services in phenylketonuria: Results after two years of follow-up with an adult team. Nutrients, 13.","key":"ref_32","DOI":"10.3390\/nu13030799"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.jada.2009.10.030","article-title":"Perspectives on dietary adherence among women with inborn errors of metabolism","volume":"110","author":"Kemper","year":"2010","journal-title":"J. Am. Diet. Assoc."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1007\/s00431-010-1364-7","article-title":"Transition from pediatric to adult health care: Expectations of adolescents with chronic disorders and their parents","volume":"170","author":"Rutishauser","year":"2011","journal-title":"Eur. J. Pediatr."},{"key":"ref_35","first-page":"572","article-title":"Transition in der Nephrologie","volume":"66","author":"Pape","year":"2025","journal-title":"Inn. Med."},{"key":"ref_36","first-page":"501","article-title":"Proceso de transici\u00f3n de la asistencia pedi\u00e1trica a la adulta en pacientes con errores cong\u00e9nitos del metabolismo. Documento de consenso","volume":"147","author":"Ameijeiras","year":"2016","journal-title":"Med. Clin."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1056\/NEJMp0904131","article-title":"A strategy for health care reform\u2014Toward a value-based system","volume":"361","author":"Porter","year":"2009","journal-title":"N. Engl. J. Med."},{"unstructured":"(2025, October 31). Corrigendum to Regulation (EU) 2016\/679 of the European Parliament and of the Council of 27 April 2016 on the Protection of Natural Persons with Regard to the Processing of Personal Data and on the Free Movement of Such Data, and Repealing Directive 95\/46\/EC (General Data Protection Regulation) (OJ L 119, 4.5.2016). Available online: http:\/\/data.europa.eu\/eli\/reg\/2016\/679\/2016-05-04.","key":"ref_38"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.nefro.2016.05.012","article-title":"Transici\u00f3n coordinada del paciente con cistinosis desde la medicina pedi\u00e1trica a la medicina del adulto","volume":"36","author":"Ariceta","year":"2016","journal-title":"Nefrolog\u00eda"},{"unstructured":"Antares (2025, October 31). Value-Based Healthcare: De la Teor\u00eda a la Acci\u00f3n. Available online: https:\/\/www.antares-consulting.com\/value-based-healthcare-de-la-teoria-a-la-accion\/.","key":"ref_40"},{"key":"ref_41","first-page":"27","article-title":"Pacientes empoderados para una mayor confianza en el sistema sanitario","volume":"30","year":"2015","journal-title":"Rev. Calid. Asist."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.ymgme.2009.09.005","article-title":"Management of phenylketonuria in Europe: Survey results from 19 countries","volume":"99","author":"Blau","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"ref_43","first-page":"100510","article-title":"The transition of patients with mucopolysaccharidosis from paediatric to adult care","volume":"21","author":"Lampe","year":"2019","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/j.arcped.2018.05.009","article-title":"Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M)","volume":"25","author":"Chabrol","year":"2018","journal-title":"Arch. Pediatr."},{"key":"ref_45","first-page":"293","article-title":"The principles of the transition process from paediatric to adult services in inborn errors of metabolism\u2014Own experience","volume":"19","author":"Hendriksz","year":"2015","journal-title":"Dev. Period. Med."},{"unstructured":"(2025, October 31). Hospital Sant Joan de D\u00e9u. Transici\u00f3 a L\u2019hospital D\u2019adults. Available online: https:\/\/apps.sjdhospitalbarcelona.org\/infocap\/es\/transicion-al-hospital-de-adultos.","key":"ref_46"},{"unstructured":"(2025, October 31). Sociedad Espa\u00f1ola de Medicina Interna. Por una Medicina Interna de Alto Valor [Internet]. 2024. Available online: https:\/\/www.fesemi.org\/publicaciones\/por-una-medicina-interna-de-alto-valor.","key":"ref_47"},{"doi-asserted-by":"crossref","unstructured":"Pedersen, M., and H\u00f6ybye, C. (2021). An adapted model for transition to adult care in young adults with Prader\u2013Willi syndrome. J. Clin. Med., 10.","key":"ref_48","DOI":"10.3390\/jcm10091991"},{"key":"ref_49","first-page":"150","article-title":"Unidades de transici\u00f3n para pacientes con patolog\u00eda reum\u00e1tica: Revisi\u00f3n de la literatura","volume":"8","year":"2012","journal-title":"Reumatol. Clin."},{"key":"ref_50","first-page":"83","article-title":"European guidelines on diagnosis and treatment of phenylketonuria: First revision","volume":"145","author":"MacDonald","year":"2025","journal-title":"Mol. Genet. Metab."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.ymgme.2022.04.004","article-title":"The management of transitional care of patients affected by phenylketonuria in Italy: Review and expert opinion","volume":"136","author":"Giacomo","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"ref_52","first-page":"13","article-title":"Ready, steady, go\u2014Achieving successful transition in cystic fibrosis","volume":"27","author":"Connett","year":"2018","journal-title":"Paediatr. Respir. Rev."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/15\/1\/81\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,25]],"date-time":"2025-12-25T05:19:21Z","timestamp":1766639961000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/15\/1\/81"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,22]]},"references-count":52,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1]]}},"alternative-id":["jcm15010081"],"URL":"https:\/\/doi.org\/10.3390\/jcm15010081","relation":{},"ISSN":["2077-0383"],"issn-type":[{"type":"electronic","value":"2077-0383"}],"subject":[],"published":{"date-parts":[[2025,12,22]]}}}