153 related articles for article (PubMed ID: 38216729)
1. Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling.
Koshimizu E; Kato M; Misawa K; Uchiyama Y; Tsuchida N; Hamanaka K; Fujita A; Mizuguchi T; Miyatake S; Matsumoto N
J Hum Genet; 2024 Apr; 69(3-4):153-157. PubMed ID: 38216729
[TBL] [Abstract][Full Text] [Related]
2. Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.
Himmelreich N; Montioli R; Garbade SF; Kopesky J; Elsea SH; Carducci C; Voltattorni CB; Blau N
Mol Genet Metab; 2022 Dec; 137(4):359-381. PubMed ID: 36427457
[TBL] [Abstract][Full Text] [Related]
3. Aromatic L-amino acid decarboxylase deficiency in Taiwan.
Lee HF; Tsai CR; Chi CS; Chang TM; Lee HJ
Eur J Paediatr Neurol; 2009 Mar; 13(2):135-40. PubMed ID: 18567514
[TBL] [Abstract][Full Text] [Related]
4. Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.
Lee NC; Lee YM; Chen PW; Byrne BJ; Hwu WL
Hum Mol Genet; 2016 Dec; 25(23):5142-5147. PubMed ID: 27658936
[TBL] [Abstract][Full Text] [Related]
5. Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
Hyland K; Reott M
Pediatr Neurol; 2020 May; 106():38-42. PubMed ID: 32111562
[TBL] [Abstract][Full Text] [Related]
6. A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency.
Dai L; Ding C; Fang F
Brain Dev; 2019 Feb; 41(2):205-209. PubMed ID: 30144970
[TBL] [Abstract][Full Text] [Related]
7. Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.
Montioli R; Cellini B; Borri Voltattorni C
J Inherit Metab Dis; 2011 Dec; 34(6):1213-24. PubMed ID: 21541720
[TBL] [Abstract][Full Text] [Related]
8. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N; Bertoldi M; Alfadhel M; Alghamdi MA; Anikster Y; Bao X; Bashiri FA; Zeev BB; Bisello G; Ceylan AC; Chien YH; Choy YS; Elsea SH; Flint L; García-Cazorla À; Gijavanekar C; Gümüş EY; Hamad MH; Hişmi B; Honzik T; Hübschmann OK; Hwu WL; Ibáñez-Micó S; Jeltsch K; Juliá-Palacios N; Kasapkara ÇS; Kurian MA; Kusmierska K; Liu N; Ngu LH; Odom JD; Ong WP; Opladen T; Oppeboen M; Pearl PL; Pérez B; Pons R; Rygiel AM; Shien TE; Spaull R; Sykut-Cegielska J; Tabarki B; Tangeraas T; Thöny B; Wassenberg T; Wen Y; Yakob Y; Yin JGC; Zeman J; Blau N
Mol Genet Metab; 2023 Jul; 139(3):107624. PubMed ID: 37348148
[TBL] [Abstract][Full Text] [Related]
9. Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype.
Hasegawa Y; Nishi E; Mishima Y; Sakaguchi T; Sekiguchi F; Miyake N; Kojima K; Osaka H; Matsumoto N; Okamoto N
Brain Dev; 2021 Nov; 43(10):1023-1028. PubMed ID: 34481663
[TBL] [Abstract][Full Text] [Related]
10. Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings.
Monteleone B; Hyland K
BMC Neurol; 2020 Jan; 20(1):12. PubMed ID: 31918669
[TBL] [Abstract][Full Text] [Related]
11. Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.
Atwal PS; Donti TR; Cardon AL; Bacino CA; Sun Q; Emrick L; Reid Sutton V; Elsea SH
Mol Genet Metab; 2015; 115(2-3):91-4. PubMed ID: 25956449
[TBL] [Abstract][Full Text] [Related]
12. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.
Himmelreich N; Montioli R; Bertoldi M; Carducci C; Leuzzi V; Gemperle C; Berner T; Hyland K; Thöny B; Hoffmann GF; Voltattorni CB; Blau N
Mol Genet Metab; 2019 May; 127(1):12-22. PubMed ID: 30952622
[TBL] [Abstract][Full Text] [Related]
13. Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience.
Burlina A; Giuliani A; Polo G; Gueraldi D; Gragnaniello V; Cazzorla C; Opladen T; Hoffmann G; Blau N; Burlina AP
Mol Genet Metab; 2021 May; 133(1):56-62. PubMed ID: 33744095
[TBL] [Abstract][Full Text] [Related]
14. Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders.
Riva A; Iacomino M; Piccardo C; Franceschetti L; Franchini R; Baroni A; Minetti C; Bisello G; Zara F; Scala M; Striano P; Bertoldi M
Biochem Biophys Res Commun; 2023 Sep; 673():131-136. PubMed ID: 37385007
[TBL] [Abstract][Full Text] [Related]
15. The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.
Wen Y; Wang J; Zhang Q; Chen Y; Bao X
J Hum Genet; 2020 Sep; 65(9):759-769. PubMed ID: 32409695
[TBL] [Abstract][Full Text] [Related]
16. Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations.
Montioli R; Janson G; Paiardini A; Bertoldi M; Borri Voltattorni C
IUBMB Life; 2018 Mar; 70(3):215-223. PubMed ID: 29356298
[TBL] [Abstract][Full Text] [Related]
17. Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
Montioli R; Borri Voltattorni C
Int J Mol Sci; 2021 Mar; 22(6):. PubMed ID: 33808712
[TBL] [Abstract][Full Text] [Related]
18. S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine.
Montioli R; Oppici E; Cellini B; Roncador A; Dindo M; Voltattorni CB
Hum Mol Genet; 2013 Apr; 22(8):1615-24. PubMed ID: 23321058
[TBL] [Abstract][Full Text] [Related]
19. A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition.
Kojima K; Anzai R; Ohba C; Goto T; Miyauchi A; Thöny B; Saitsu H; Matsumoto N; Osaka H; Yamagata T
Brain Dev; 2016 Nov; 38(10):959-963. PubMed ID: 27371992
[TBL] [Abstract][Full Text] [Related]
20. Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.
Dai W; Lu D; Gu X; Yu Y;
Mol Genet Genomic Med; 2020 Mar; 8(3):e1143. PubMed ID: 31975548
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]