The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China
Author:
Funder
Ministry of Health of China | Wu Jieping Medical Foundation
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s10038-020-0770-6.pdf
Reference26 articles.
1. Brun L, Ngu LH, Keng WT, Ch’ng GS, Choy YS, Hwu WL, et al. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology. 2010;75:64–71.
2. Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, et al. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook. Mol Genet Metab. 2019;127:12–22.
3. Montioli R, Cellini B, Borri Voltattorni C. Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency. J Inherit Metab Dis. 2011;34:1213–24.
4. Guenter J, Lenartowski R. Molecular characteristic and physiological role of DOPA-decarboxylase. Postepy Hig Med Dosw. 2016;70:1424–40.
5. Montioli R, Dindo M, Giorgetti A, Piccoli S, Cellini B, Voltattorni CB. A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications. Hum Mol Genet. 2014;23:5429–40.
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