Aromatic l-amino acid decarboxylase deficiency in Taiwan.
AADC
Chinese
DDC
Taiwan
aromatic l‐amino acid decarboxylase
incidence
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Sep 2023
Sep 2023
Historique:
received:
17
05
2023
revised:
13
07
2023
accepted:
21
07
2023
medline:
13
9
2023
pubmed:
13
9
2023
entrez:
13
9
2023
Statut:
epublish
Résumé
Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare inherited disorder that affects neurotransmitter biosynthesis. A
Identifiants
pubmed: 37701332
doi: 10.1002/jmd2.12387
pii: JMD212387
pmc: PMC10494508
doi:
Types de publication
Journal Article
Langues
eng
Pagination
387-392Informations de copyright
© 2023 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
Wuh‐Liang Hwu participated as an advisory board member, received consulting fees, and was a speaker for PTC Therapeutics. In addition, he was a grant recipient for PTC Therapeutics and a research investigator for PTC Therapeutics. Rai‐Hseng Hsu, Mei‐Hsin Li, Hui‐Min Lee, Hui‐An Chen, Ni‐Chung Lee, and Yin‐Hsiu Chien declare no conflict of interest.
Références
Mol Genet Genomic Med. 2020 Mar;8(3):e1143
pubmed: 31975548
Lancet Child Adolesc Health. 2017 Dec;1(4):265-273
pubmed: 30169182
JIMD Rep. 2018;40:1-6
pubmed: 28856607
Mol Genet Metab. 2019 May;127(1):12-22
pubmed: 30952622
J Hum Genet. 2020 Sep;65(9):759-769
pubmed: 32409695
J Inherit Metab Dis. 1990;13(3):301-4
pubmed: 1700191
Eur J Paediatr Neurol. 2009 Mar;13(2):135-40
pubmed: 18567514
J Inherit Metab Dis. 2020 May;43(3):602-610
pubmed: 31849064
Neurology. 2004 Apr 13;62(7):1058-65
pubmed: 15079002
Mol Ther. 2022 Feb 2;30(2):509-518
pubmed: 34763085
J Inherit Metab Dis. 2020 Sep;43(5):1121-1130
pubmed: 32369189
Gene. 2015 Apr 1;559(2):144-8
pubmed: 25597765
Neurology. 1992 Oct;42(10):1980-8
pubmed: 1357595
Sci Transl Med. 2012 May 16;4(134):134ra61
pubmed: 22593174
Hum Brain Mapp. 2017 Mar;38(3):1532-1540
pubmed: 27859928
Mol Genet Metab. 2016 Aug;118(4):259-63
pubmed: 27216367
Ann Neurol. 2003;54 Suppl 6:S49-55
pubmed: 12891654
Orphanet J Rare Dis. 2017 Jan 18;12(1):12
pubmed: 28100251
Clin Chim Acta. 2014 Apr 20;431:19-22
pubmed: 24513538
Regen Med. 2016 Jun;11(4):381-93
pubmed: 27185544
Mol Genet Metab. 2021 May;133(1):56-62
pubmed: 33744095
Neurology. 2010 Jul 6;75(1):64-71
pubmed: 20505134
Mol Genet Metab. 2007 Aug;91(4):374-8
pubmed: 17533144