Photo by Monstera Production on Pexels
Penyakit Refsum: Penyebab, Gejala, Diagnosis, dan Penanganan
📚 Daftar Pustaka (APA 7)
[1]
Steinberg S, Moo CF, Moser AB, et al. Refsum disease. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.
[2]
Baldwin EJ, Gibberd WD, Harley C, et al. The effectiveness of long-term dietary management in adult Refsum disease. J Neurol Neurosurg Psychiatry. 2011;82(6):620-624.
[3]
Wierzbicki AS, Lloyd MD, Schofield CJ, et al. Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. J Neurochem. 2007;103(5):1807-1817.
[4]
Jansen GA, Waterham HR, Wanders RJ. Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat. 2004;23(3):209-218.
[5]
Moser AB, Jones RO, Hubbard WC, et al. Newborn screening for Refsum disease. J Inherit Metab Dis. 2016;39(5):733-740.
[6]
Paker AM, McGuinness M, Engle EC. Refsum disease. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024.
[7]
Roe CR, Steinberg S, Moser AB. Refsum disease. In: Rosenberg RN, Pascual JM, editors. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. 5th ed. Academic Press; 2020. p. 789-800.