A holistic approach to the patients/Families with inborn errors of metabolism

Burgard, Peter

doi:10.34763/jmotherandchild.20202402si.2004.000010

References

Noyes J, Pritchard A, Rees S, Hastings R, Jones K, Mason H, et al. Bridging the gap: transition from children’s to adult palliative care: final Report. Bangor University, United Kingdom, Together for Short Lives. Bangor University, UK; 2014. 48 p. Available from: https://www.togetherforshortlives.org.uk/wp-content/uploads/2018/01/ExRes-Bridging-The-Gap.pdf Access Date 30. August 2020.
Search in Google Scholar Back to article
Saudubray JM, Sedel F, Walter JH. Clinical approach to treatable inborn metabolic diseases: an introduction. J Inherit Metab Dis. 2006;29(2-3):261-74. DOI:10.1007/s10545-006-0358-0.
Open DOI Search in Google Scholar Back to article
Garbade SF, Shen N, Himmelreich N, Haas D, Trefz FK, Hoff-mann GF, et al. Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria. Genet Med. 2019;21(3):580-90. DOI:10.1038/s41436-018-0081-x.
Open DOI Search in Google Scholar Back to article
Boulding KE. General systems theory—the skeleton of science. Manage Sci. 1956;2(3):197-208. doi:10.1287/mnsc.2.3.197.
Open DOI Search in Google Scholar Back to article
Von Bertalanfy L. The theory of open systems in physics and biology. Science. 1950;111(2872):23–9. doi:10.1126/sci-ence.111.2872.23.
Open DOI Search in Google Scholar Back to article
Ten Hoedt AE, Hollak CE, Boelen CC, van der Herberg-van de Wetering NA, Ter Horst NM, Jonkers CF, et al. “MY PKU”: increasing self-management in patients with phenylketonuria. A randomized controlled trial. Orphanet J Rare Dis. 2011;6:48. doi:10.1186/1750-1172-6-48.
Open DOI Search in Google Scholar Back to article
Mazur A, Dembinski L, Schrier L, Hadjipanayis A, Michaud PA. European Academy of Paediatric consensus statement on successful transition from paediatric to adult care for adolescents with chronic conditions. Acta Paediatr. 2017;106(8):1354–7. doi:10.1111/apa.13901.
Open DOI Search in Google Scholar Back to article
Ewing CI, Cropper SA, Horsburgh TB. Developing, implementing and evaluating integrated care models for infants, children, young people and their families. Arch Dis Child. 2016;101(9):781–2. doi:10.1136/archdischild-2015-309886.
Open DOI Search in Google Scholar Back to article
Watson M. The importance of engaging users and measuring outcome for integrated care: response to Ewing and Woodman. Arch Dis Child. 2017;102(9):876–7. doi:10.1136/archdis-child-2017-313110.
Open DOI Search in Google Scholar Back to article
Wolfe I, Lemer C, Cass H. Integrated care: a solution for improving children’s health? Arch Dis Child. 2016;101(11):992–7. doi:10.1136/archdischild-2013-304442.
Open DOI Search in Google Scholar Back to article
Woodman J, Lewis H, Cheung R, Gilbert R, Wijlaars LP. Integrating primary and secondary care for children and young people: sharing practice. Arch Dis Child. 2016;101(9):792–7. doi:10.1136/archdischild-2015-308558.
Open DOI Search in Google Scholar Back to article
Bali A, Hargreaves DS, Cowman J, Lakhanpaul M, Dunkley C, Power M, et al. Integrated care for childhood epilepsy: ongoing challenges and lessons for other long-term conditions. Arch Dis Child. 2016;101(11):1057–62. doi:10.1136/archdis-child-2015-309794.
Open DOI Search in Google Scholar Back to article
Ferreira CR, van Karnebeek CDM, Vockley J, Blau N. A proposed nosology of inborn errors of metabolism. Genet Med. 2019;21(1):102–6. doi:10.1038/s41436-018-0022-8.
Open DOI Search in Google Scholar Back to article
Cederbaum JA, LeMons C, Rosen M, Ahrens M, Vonachen S, Cederbaum SD. Psychosocial issues and coping strategies in families affected by urea cycle disorders. J Pediatr. 2001;138(1 Suppl):S72–80. doi:10.1067/mpd.2001.111839.
Open DOI Search in Google Scholar Back to article
Forsyth RJ. We have to talk about health-related quality of life. Arch Dis Child. 2018;103(10):913–4. doi:10.1136/archdis-child-2018-314951.
Open DOI Search in Google Scholar Back to article
Bronfenbrenner U, Morris PA. The ecology of developmental processes. p. 993-1028. In: Damon W (editor in chief), Lerner RM (volume editor). Handbook of child psychology. Vol. 1: Theoretical models of human development. 5th ed. Chichester, UK: John Wiley & Sons Inc., 1998; 1274 p. ISBN 9780471055273.
Search in Google Scholar Back to article
Bronfenbrenner U, Morris PA. The bioecological model of human development. p. 793–828. In: Damon W (editor in chief), Lerner RM (volume editor). Handbook of child psychology. Vol. 1: Theoretical models of human development. 6th ed. New York (NY), USA: John Wiley & Sons Inc.; 2006; XX, 1250 p. ISBN 9780471272878.
Search in Google Scholar Back to article
Siegler R, DeLoache J, Eisenberg N. How children develop. 4th ed. New York (NY), USA: Worth Publishing Ltd.; 2014. 666 pp. ISBN 978-1429242318.
Search in Google Scholar Back to article
Grasemann C, Matar N, Bauer J, Manka E, Mundlos C, Krude H, et al. Ein strukturierter Versorgungs-pfad von der Pädiatrie in die Erwachsenenmedizin für Jugend-liche und junge Erwachsene mit einer seltenen Erkrankung. Monatsschr Kinderheilkd. 2020 May 25 Epub ahead of print. doi:10.1007/s00112-020-00929-5.
Open DOI Search in Google Scholar Back to article
Gramer G, Haege G, Glahn EM, Hoffmann GF, Lindner M, Burgard P. Living with an inborn error of metabolism detected by newborn screening-parents’ perspectives on child development and impact on family life. J Inherit Metab Dis. 2014;37(2):189-95. DOI:10.1007/s10545-013-9639-6.
Open DOI Search in Google Scholar Back to article
Weber SL, Segal S, Packman W. Inborn errors of metabolism: psychosocial challenges and proposed family systems model of intervention. Mol Genet Metab. 2012;105(4):537–41. doi:10.1016/j.ymgme.2012.01.014.
Open DOI Search in Google Scholar Back to article
Besier T, Hölling H, Schlack R, West C, Goldbeck L. Impact of a family-oriented rehabilitation programme on behavioural and emotional problems in healthy siblings of chronically ill children. Child Care Health Dev. 2010;36(5):686-95. DOI:10.1111/j.1365-2214.2010.01085.x.
Open DOI Search in Google Scholar Back to article
Hagedorn TS, van Berkel P, Hammerschmidt G, Lhotáková M, Saludes RP. Requirements for a minimum standard of care for phenylketonuria: the patients’ perspective. Orphanet J Rare Dis. 2013;8:191. doi:10.1186/1750-1172-8-191.
Open DOI Search in Google Scholar Back to article
Evans I, Thornton H, Chalmers I, Glasziou P. Testing treatments: better research for better healthcare. 2nd ed. London (UK): Pinter & Martin; 2011. 199 pp. ISBN 978-1-905177-48-6.
Search in Google Scholar Back to article
Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, et al.; Additional individual contributors. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis. 2017;40(1):75–101. doi:10.1007/s10545-016-9999-9.
Open DOI Search in Google Scholar Back to article
Burgard P, Ullrich K, Ballhausen D, Hennermann JB, Hollak CEM, Langeveld M, et al. Issues with European guidelines for phenylketonuria. Lancet Diabetes Endocrinol. 2017;5(9):681–3. doi:10.1016/S2213-8587(17)30201-2.
Open DOI Search in Google Scholar Back to article
Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32. doi:10.1186/1750-1172-7-32.
Open DOI Search in Google Scholar Back to article
van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, et al. Key European guidelines for the diagnosis and management of patients with phenylketonuria. Lancet Diabetes Endocrinol. 2017;5(9):743–56. doi:10.1016/S2213-8587(16)30320-5..
Open DOI Search in Google Scholar Back to article
Heringer J, Boy SP, Ensenauer R, Assmann B, Zschocke J, Harting I, et al. Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol. 2010;68(5):743–52. doi:10.1002/ana.22095.
Open DOI Search in Google Scholar Back to article
Burgard P. Structured communication and behavioural medicine. p. 33–40. In: Hoffmann GF, Zschocke J, Nyhan WL, editors. Inherited metabolic diseases: a clinical approach. 2nd ed. Berlin, Heidelberg: Springer; 2017; XVII, 605 pp. ISBN 978-3-66249408-0. e-ISSN 978-3-662-49410-3. doi:10.1007/978-3-662-49410-3.
Open DOI Search in Google Scholar Back to article
Pfeil J, Listl S, Hoffmann GF, Kölker S, Lindner M, Burgard P. Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis. Orphanet J Rare Dis. 2013;8:167. doi:10.1186/1750-1172-8-167.
Open DOI Search in Google Scholar Back to article
Schieppati A, Henter JI, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet. 2008;371(9629):2039–41. doi:10.1016/S0140-6736(08)60872-7.
Open DOI Search in Google Scholar Back to article
Abraham J. The pharmaceutical industry as a political player. Lancet. 2002;360(9344):1498–502. doi:10.1016/S0140-6736(02)11477-2.
Open DOI Search in Google Scholar Back to article
Collier J, Iheanacho I. The pharmaceutical industry as an informant. Lancet. 2002;360(9343):1405–9. doi:10.1016/S0140-6736(02)11394-8.
Open DOI Search in Google Scholar Back to article
Henry D, Lexchin J. The pharmaceutical industry as a medicines provider. Lancet. 2002;360(9345):1590–5. doi:10.1016/S0140-6736(02)11527-3.
Open DOI Search in Google Scholar Back to article
Dukes MN. Accountability of the pharmaceutical industry. Lancet. 2002;360(9346):1682–1684. doi:10.1016/S0140-6736(02)11599-6.
Open DOI Search in Google Scholar Back to article
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014;9:130. doi:10.1186/s13023-014-0130-8.
Open DOI Search in Google Scholar Back to article
Norris SL, Nichols PJ, Caspersen CJ, Glasgow RE, Engelgau MM, Jack L, et al. The effectiveness of disease and case management for people with diabetes. A systematic review. Am J Prev Med. 2002;22(4 Suppl):15–38. doi:10.1016/s0749-3797(02)00423-3.
Open DOI Search in Google Scholar Back to article
Héon-Klin V. European Reference networks for rare diseases: what is the conceptual framework? Orphanet J Rare Dis. 2017;12(1):137. doi:10.1186/s13023-017-0676-3.
Open DOI Search in Google Scholar Back to article

A holistic approach to the patients/Families with inborn errors of metabolism

References

Paradigm

My account