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• Bloomsbury Genetic Therapies Announces Orphan Drug Designations of BGT-DTDS for the Treatment of Dopamine Transporter Deficiency Syndrome (2023)
• Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism (2021)
• Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia (2021)
• Expanding the phenotypic spectrum of dopamine transporter deficiency syndrome with a novel mutation (2020)
• Early-onset Dopamine Transporter Deficiency Syndrome: Long-term Follow-up (2020)
• Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family (2020)
• Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment (2016)
• Kurian MA, Assmann BE. The monoamine “transportopathies”: Dopamine transporter deficiency syndrome and vesicular monoamine transporter deficiency. In: Hoffmann G, Blau N, eds. Congenital Neurotransmitter Disorders: A Clinical Approach. New York: Nova Science Publishers Inc; 2015:81-91.
• Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood (2014)
• Clinical and molecular characterization of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study (2011)
• Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia (2009)
• Infantile parkinsonism-dystonia: a dopamine “transportopathy” (2009)
• SLC6A3-Related Dopamine Transporter Deficiency Syndrome (1993)