Approaches for diagnosis and treatment in neurotransmitter disorders of childhood
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Assmann B, Surtees R, Hoffmann GF (2003) Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia. Ann Neurol 54(Suppl 6):S18–S24
Brennenstuhl H, Jung-Klawitter S, Assmann B, Opladen T (2019) Inherited disorders of neurotransmitters: classification and practical approaches for diagnosis and treatment. Neuropediatrics 50(1):2–14
Brennenstuhl H et al (2020) High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots. J Inherit Metab Dis 43(3):602–610
Hyland K (2003) The lumbar puncture for diagnosis of pediatric neurotransmitter diseases. Ann Neurol 54(Suppl 6):S13–S17
Friedman J et al (2012) Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol 71(4):520–530
Kurian MA, Gissen P, Smith M, Heales S Jr, Clayton PT (2011) The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. Lancet Neurol 10(8):721–733
Kuseyri Hübschmann O et al (2021) Brain MR patterns in inherited disorders of monoamine neurotransmitters: an analysis of 70 patients. J Inherit Metab Dis 44(4):1070–1082
Manegold C, Hoffmann GF, Degen I, Ikonomidou H, Knust A, Laass MW, Pritsch M, Wilichowski E, Hörster F (2009) Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. J Inherit Metab Dis 32:371–380
Opladen T, Hoffmann GF, Blau N (2012) An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J Inherit Metab Dis 35(6):963–973
Opladen T, López-Laso E, Cortès-Saladelafont E et al (2020) Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. Orphanet J Rare Dis 15:126. https://doi.org/10.1186/s13023-020-01379-8
Pearl PL, Taylor JL, Trzcinski S, Sokohl A (2007) The pediatric neurotransmitter disorders. J Child Neurol 22(5):606–616
Pearson TS et al (2020) AADC deficiency from infancy to adulthood: symptoms and developmental outcome in an international cohort of 63 patients. J Inherit Metab Dis 43(5):1121–1130
Pearson TS et al (2021) Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons. Nat Commun 12(1):4251
Saini AG, Sharma S (2020) Movement disorders in inherited metabolic diseases in children. Ann Indian Acad Neurol 23(3):332–337
Swoboda KJ, Walker MA (2018) Neurotransmitter-related disorders. Swaiman's pediatric neurology. Swaiman K.F.: 886–896.