PubMed (OMIM) for id: 1644

Year	Number of Results
1972	1
1989	1
1990	2
1992	4
1997	2
1998	2
2000	1
2001	1
2003	2
2004	1
2005	1
2007	1
2009	1
2010	1
2011	1
2012	1
2013	1
2017	1
2019	2
2020	1
2021	3
2024	0

1

Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins.

Longo C, Montioli R, Bisello G, Palazzi L, Mastrangelo M, Brennenstuhl H, de Laureto PP, Opladen T, Leuzzi V, Bertoldi M. Longo C, et al. Mol Genet Metab. 2021 Sep-Oct;134(1-2):147-155. doi: 10.1016/j.ymgme.2021.08.011. Epub 2021 Aug 28. Mol Genet Metab. 2021. PMID: 34479793

2

Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22].

Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N. Himmelreich N, et al. Mol Genet Metab. 2021 Sep-Oct;134(1-2):216. doi: 10.1016/j.ymgme.2021.06.010. Epub 2021 Jul 7. Mol Genet Metab. 2021. PMID: 34244047 No abstract available.

3

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. Burlina A, et al. Mol Genet Metab. 2021 May;133(1):56-62. doi: 10.1016/j.ymgme.2021.03.009. Epub 2021 Mar 13. Mol Genet Metab. 2021. PMID: 33744095

4

Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency.

Brennenstuhl H, Garbade SF, Okun JG, Feyh P, Hoffmann GF, Langhans CD, Opladen T. Brennenstuhl H, et al. Mol Genet Metab. 2020 Sep-Oct;131(1-2):163-170. doi: 10.1016/j.ymgme.2020.07.001. Epub 2020 Jul 7. Mol Genet Metab. 2020. PMID: 32675002

5

A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.

Montioli R, Battini R, Paiardini A, Tolve M, Bertoldi M, Carducci C, Leuzzi V, Borri Voltattorni C. Montioli R, et al. Mol Genet Metab. 2019 Jun;127(2):132-137. doi: 10.1016/j.ymgme.2019.05.004. Epub 2019 May 10. Mol Genet Metab. 2019. PMID: 31104889

6

Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency.

Kojima K, Nakajima T, Taga N, Miyauchi A, Kato M, Matsumoto A, Ikeda T, Nakamura K, Kubota T, Mizukami H, Ono S, Onuki Y, Sato T, Osaka H, Muramatsu SI, Yamagata T. Kojima K, et al. Brain. 2019 Feb 1;142(2):322-333. doi: 10.1093/brain/awy331. Brain. 2019. PMID: 30689738 Free PMC article. Clinical Trial.

7

Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial.

Chien YH, Lee NC, Tseng SH, Tai CH, Muramatsu SI, Byrne BJ, Hwu WL. Chien YH, et al. Lancet Child Adolesc Health. 2017 Dec;1(4):265-273. doi: 10.1016/S2352-4642(17)30125-6. Epub 2017 Oct 23. Lancet Child Adolesc Health. 2017. PMID: 30169182

8

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. Montioli R, et al. Hum Mol Genet. 2013 Apr 15;22(8):1615-24. doi: 10.1093/hmg/ddt011. Epub 2013 Jan 15. Hum Mol Genet. 2013. PMID: 23321058

9

Gene therapy for aromatic L-amino acid decarboxylase deficiency.

Hwu WL, Muramatsu S, Tseng SH, Tzen KY, Lee NC, Chien YH, Snyder RO, Byrne BJ, Tai CH, Wu RM. Hwu WL, et al. Sci Transl Med. 2012 May 16;4(134):134ra61. doi: 10.1126/scitranslmed.3003640. Sci Transl Med. 2012. PMID: 22593174 Clinical Trial.

10

A transient placental source of serotonin for the fetal forebrain.

Bonnin A, Goeden N, Chen K, Wilson ML, King J, Shih JC, Blakely RD, Deneris ES, Levitt P. Bonnin A, et al. Nature. 2011 Apr 21;472(7343):347-50. doi: 10.1038/nature09972. Nature. 2011. PMID: 21512572 Free PMC article.

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