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Parkinsonism in GNDs53259. Zielonka M, Makhseed N, Blau N, Bettendorf M, Hoffmann GF, Opladen T. Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.JIMD Rep. 2015;24:109-13. doi:10.1007/8904_2015_45060. de Rijk-Van Andel JF, Gabreels FJ, Geurtz B, et al. L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency. Neurology. Dec 26 2000;55(12):1926-8. doi:10.1212/wnl.55.12.192661. Manti F, Barresi S, Venditti M, et al. Neurotransmitter trafficking defect in a patient with theclathrin (CLTC) alteration presenting with hyperphenylalaninemia and Parkinsonism. Journal of Inherited Metabolic Disease. 2018;41(Supplement 1):S42-S43. 56th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, SSIEM 2018. Greece. doi:http://dx.doi.org/10.1007/s10545-018-0233-962. Gorenberg EL, Chandra SS. The Role of Co-chaperones in Synaptic Proteostasis and Neurodegenerative Disease. Front Neurosci. 2017;11:248. doi:10.3389/fnins.2017.0024863. Fasano D, Parisi S, Pierantoni GM, et al. Alteration of endosomal trafficking is associated withearly-onset parkinsonism caused by SYNJ1 mutations. Cell Death Dis. Mar 7 2018;9(3):385. doi:10.1038/s41419-018-0410-764. Matsuura T, Sutcliffe JS, Fang P, et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet. Jan 1997;15(1):74-7. doi:10.1038/ng0197-7465. Mulherkar SA, Sharma J, Jana NR. The ubiquitin ligase E6-AP promotes degradation of alphasynuclein. J Neurochem. Sep 2009;110(6):1955-64. doi:10.1111/j.1471-4159.2009.06293.x66. Namihira T, Hattori N, Shiroma S, Miyazato Y. Autosomal recessive juvenile Parkinson’s disease with partial trisomy of chromosome 6q syndrome: a case report. Psychiatry Clin Neurosci. Dec 2004;58(6):672-3. doi:10.1111/j.1440-1819.2004.01321.x67. Fishman PS, Oyler GA. Significance of the parkin gene and protein in understanding Parkinson’sdisease. Curr Neurol Neurosci Rep. Jul 2002;2(4):296-302. doi:10.1007/s11910-002-0004-768. Ishii T, Funakoshi M, Kobayashi H. Yeast Pth2 is a UBL domain-binding protein that participates in the ubiquitin-proteasome pathway. Embo j. Nov 29 2006;25(23):5492-503. doi:10.1038/sj.emboj.760141869. Pilo de la Fuente B, Ruiz I, Lopez de Munain A, Jimenez-Escrig A. Cerebrotendinous xanthomatosis: neuropathological findings. J Neurol. Jun 2008;255(6):839-42. doi:10.1007/s00415-008-0729-670. Chen JY, Oza VS, Gopi R, Christine CW. Rapidly progressive Parkinsonism in a patient with incontinentia pigmenti. Movement Disorders. 2015;30(SUPPL. 1):S476-S477. 19th International Congress of Parkinson’s Disease and Movement Disorders. San Diego, CA United States.(var.pagings). doi:http://dx.doi.org/10.1002/mds.2629571. Tamtaji OR, Reiter RJ, Alipoor R, Dadgostar E, Kouchaki E, Asemi Z. Melatonin and Parkinson Disease: Current Status and Future Perspectives for Molecular Mechanisms. Cell Mol Neurobiol. Jan 2020;40(1):15-23. doi:10.1007/s10571-019-00720-572. Lee KS, Lee JE, Cho AH, Kim JS, Oh YS. A case of Parkinson’s disease in a patient with Klinefelter’s syndrome. Acta Neurologica Belgica. 2019;doi:http://dx.doi.org/10.1007/s13760-019-01232-173. Ma S, Sun R, Jiang B, et al. L2hgdh Deficiency Accumulates l-2-Hydroxyglutarate withProgressive Leukoencephalopathy and Neurodegeneration. Mol Cell Biol. Apr 15 2017;37(8)doi:10.1128/mcb.00492-1674. Buongarzone G, Minafra B, Errichiello E, et al. 13.3.1. Movement disorders in a family carrying ATP7A variant. Movement Disorders. 2020;35(SUPPL 1):S89. MDS International Congress. Virtual. doi:http://dx.doi.org/10.1002/mds.2826875. Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet. Jan 1993;3(1):7-13. doi:10.1038/ng0193-776. Alkufri F, Harrower T, Rahman Y, et al. Molybdenum cofactor deficiency presenting witha parkinsonism-dystonia syndrome. Mov Disord. Mar 2013;28(3):399-401. doi:10.1002/mds.25276