161 related articles for article (PubMed ID: 35575170)
1. Burden of illness of aromatic L-amino acid decarboxylase deficiency: a survey of physicians in Southern Europe.
Saberian S; Rowan P; Hammes F; Patel P; Fernandez-Cortes F; Buesch K; Beitia Ortiz de Zarate I
Curr Med Res Opin; 2022 Jul; 38(7):1115-1123. PubMed ID: 35575170
[TBL] [Abstract][Full Text] [Related]
2. Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
Reischl-Hajiabadi AT; Okun JG; Kohlmüller D; Manukjan G; Hegert S; Durner J; Schuhmann E; Hörster F; Mütze U; Feyh P; Hoffmann GF; Röschinger W; Janzen N; Opladen T
Mol Genet Metab; 2024 Mar; 141(3):108148. PubMed ID: 38302374
[TBL] [Abstract][Full Text] [Related]
3. Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency.
Tsai CR; Lee HF; Chi CS; Yang MT; Hsu CC
Hum Mutat; 2018 Dec; 39(12):2072-2082. PubMed ID: 30260058
[TBL] [Abstract][Full Text] [Related]
4. Burden and severity of disease of aromatic L-amino acid decarboxylase deficiency: a systematic literature review.
Buesch K; Zhang R; Szczepańska K; Veličković V; Turner L; Despotović M; Đorđević B; Russell A
Curr Med Res Opin; 2022 Nov; 38(11):1871-1882. PubMed ID: 35485958
[TBL] [Abstract][Full Text] [Related]
5. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T; Molero-Luis M; Jeltsch K; Hoffmann GF; Assmann B; Blau N; Garcia-Cazorla A; Artuch R; Pons R; Pearson TS; Leuzzi V; Mastrangelo M; Pearl PL; Lee WT; Kurian MA; Heales S; Flint L; Verbeek M; Willemsen M; Opladen T
Orphanet J Rare Dis; 2017 Jan; 12(1):12. PubMed ID: 28100251
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan.
Lee NC; Chien YH; Hwu WL
Am J Med Genet C Semin Med Genet; 2019 Jun; 181(2):226-229. PubMed ID: 30614627
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase.
Portaro S; Gugliandolo A; Scionti D; Cammaroto S; Morabito R; Leonardi S; Fraggetta F; Bramanti P; Mazzon E
Medicine (Baltimore); 2018 Jun; 97(22):e10953. PubMed ID: 29851841
[TBL] [Abstract][Full Text] [Related]
11. Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders.
Santa Paola S; Di Blasi FD; Borgione E; Lo Giudice M; Giuliano M; Pettinato R; Di Stefano V; Brighina F; Lupica A; Scuderi C
Genes (Basel); 2024 Jan; 15(1):. PubMed ID: 38275615
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
Roubertie A; Opladen T; Brennenstuhl H; Kuseyri Hübschmann O; Flint L; Willemsen MA; Leuzzi V; Cazorla AG; Kurian MA; François-Heude MC; Hwu P; Zeev BB; Kiening K; Roujeau T; Pons R; Pearson TS
J Inherit Metab Dis; 2024 May; 47(3):463-475. PubMed ID: 37402126
[TBL] [Abstract][Full Text] [Related]
14. Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report.
Wang H; Li J; Zhou J; Dai L; Ding C; Li M; Feng W; Fang F; Ren X; Wang X
Front Neurol; 2022; 13():919583. PubMed ID: 36119679
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Automatically pre-screening patients for the rare disease aromatic l-amino acid decarboxylase deficiency using knowledge engineering, natural language processing, and machine learning on a large EHR population.
Cohen AM; Kaner J; Miller R; Kopesky JW; Hersh W
J Am Med Inform Assoc; 2024 Feb; 31(3):692-704. PubMed ID: 38134953
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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
Mol Genet Metab; 2020; 131(1-2):163-170. PubMed ID: 32675002
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
Abukhaled M; Al Muqbil M; Alghamdi MA; Hundallah K; Suleiman J; Ben-Omran T; Alfadhel M; Almannai M; Alsaleh R; Tabarki B
Eur J Pediatr; 2023 Jun; 182(6):2535-2545. PubMed ID: 36928758
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
