References
- Kotulska K., Choroby spowodowane zaburzeniami przemiany aminokwasów, „Neurologia po Dyplomie”, 2022(3), p. 54–61.
- Lissauer T., Carroll W, Pediatria, tłum. Jackowska T., Wrotek A., Elsevier, wyd. 6, 2022.
- Kotulska K., Choroby spowodowane zaburzeniami przemiany aminokwasów, „Neurologia po Dyplomie”, 2022(3), p. 54–61.
- Strauss KA., Puffenberger EG., Carson VJ., Maple Syrup Urine Disease, „GeneReviews”, University of Washington, Seattle, 1993, PMID: 20301495.
- Hassona Y, Alqaisi D, Flaifl Y i in., The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review, „BMC Oral Health”, 2024(24), 362, https://doi.org/10.1186/s12903–024–04135–7.
- Scharre S., Mengler K., Schnabel E. i in., Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: a meta-analysis, „Genetics in Medicine”, 2024, 101303, https://doi.org/10.1016/j.gim.2024.101303.
- Program badań przesiewowych noworodków w Rzeczypospolitej Polskiej na lata 2019–2026. Podstawa prawna: art. 48 ustawy z dnia 27 sierpnia 2004 r. o świadczeniach opieki zdrowotnej finansowanych ze środków publicznych (Dz.U. 2021 poz. 1285 z późn. zm).
- Couce ML., Ramos F., Bueno MA. i in., Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis, „European Journal of Paediatric Neurology”, 2015, 19(6), p. 652–659, https://doi.org/10.1016/j.ejpn.2015.07.009.
- Chen T., Wang J., Luo X. i in., Newborn screening of maple syrup urine disease and the effect of early diagnosis, „Clinica Chimica Acta”, 2023, 548, 117483, https://doi.org/10.1016/j.cca.2023.117483.
- O’Reilly D., McNulty J., Monavari AA. i in., Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland, „Journal of Inherited Metabolic Disease”, 2021, 44(3), p. 639–655, https://doi.org/10.1002/jimd.12337.
- Kawalec W., Grenda R., Ziółkowska H., Pediatria. Wydanie 2, Warszawa, PZWL, 2018.
- Albrecht P., Pediatria – poradnik kliniczny, Wydanie 2 polskie, Elsevier, 2021.
- Pretese R., Wang Z., Ramirez M. i in., The Impact of Diet on Body Composition in a Cohort of Pediatric and Adult Patients with Maple Syrup Urine Disease, „Nutrients”, 2024, 16(18), 3145, https://doi.org/10.3390/nu16183145.
- Kowalik A., Narojek L., Sykut-Cegielska J., Realizacja diety z ograniczeniem leucyny, izoleucyny i waliny u dzieci z chorobą syropu klonowego (MSUD), Roczniki Państwowego Zakładu Higieny, 2007, 58(1), p. 95–101.
- Ewing CB., Koppaka V., Chinnakotla S. i in., Metabolic control and „ideal” outcomes in liver transplantation for maple syrup urine disease, „The Journal of Pediatrics”, 2021, 237, p. 59–64, https://doi.org/10.1016/j.jpeds.2021.06.028.
- Vasudevan A., Shanmugam N., Rammohan A. i in., Long-Term Amino Acid Homeostasis, Neurodevelopmental and Growth Profiles Following Liver Transplantation in Maple Syrup Urine Disease, „Pediatric Transplantation”, 2024, 28, https://doi.org/10.1111/petr.14845.
- Kumar V., Vij M., Prasad K. i in., Domino liver transplantation for maple syrup urine disease in children: A single-center case series, „Pediatric Transplantation”, 2023, 27(8), https://doi.org/10.1111/petr.14603.
- Takano C., Ohta H., Shimada K. i in., Clinical perspective on the use of human amniotic epithelial cells to treat congenital metabolic diseases with a focus on maple syrup urine disease, „Stem Cells Translational Medicine”, 2021, 10(6), 829–835, https://doi.org/10.1002/sctm.20–0225.
- Pontoizeau C., Simon-Sola M., Gaborit C. i in., Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice, „Nature Communications”, 2022, 13, 3278 https://doi.org/10.1038/s41467–022–30880-w.
- Shimizu S., Yoshino H., Morioka D. i in., Surgical technique and the long‐term outcomes of pediatric living donor domino liver transplantation from patients with maple syrup urine disease, „Pediatric Transplantation”, 2022, 26(2), https://doi.org/10.1111/petr.14174.
- Banjar HR., A smart monitoring system for self-nutrition management in pediatric patients with inherited metabolic disorders: Maple Syrup Urine Disease (MSUD), „Healthcare”, 2023, 11(2), 178, https://doi.org/10.3390/healthcare11020178.
- Alrige M., Almutairi N., Banjar HR. i in., Knowledge-based dietary intake recommendations of nutrients for pediatric patients with Maple Syrup Urine Disease, „Healthcare”, 2023, 11(3), 301, https://doi.org/10.3390/healthcare11030301.