161 related articles for article (PubMed ID: 33763332)
21. Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous
Cursio I; Siliquini S; Carducci C; Bisello G; Mastrangelo M; Leuzzi V; Bertoldi M; Marini C
Front Neurol; 2023; 14():1284339. PubMed ID: 38116105
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. 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]
25. Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency.
Babiker MOE; Kurian MA; Suleiman J
Front Pediatr; 2022; 10():964201. PubMed ID: 36110109
[TBL] [Abstract][Full Text] [Related]
26. Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency.
Manti F; Mastrangelo M; Battini R; Carducci C; Spagnoli C; Fusco C; Tolve M; Carducci C; Leuzzi V
Parkinsonism Relat Disord; 2022 Oct; 103():105-111. PubMed ID: 36096017
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. [Feeding difficulty and developmental delay for 8 months and nystagmus for 4 months in an infant].
Zhu J; Yu F
Zhongguo Dang Dai Er Ke Za Zhi; 2017 Jan; 19(1):68-72. PubMed ID: 28100326
[TBL] [Abstract][Full Text] [Related]
29. Corrigendum to " Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry" [32/100888 (2022) page 1-4].
Civallero G; Kubaski F; Pereira D; Rübensam G; Herbst ZM; Silva C; Trapp FB; Poletto E; Faqueti L; Iop G; Soares J; van der Linden V; van der Linden H; Lourenço CM; Giugliani R
Mol Genet Metab Rep; 2023 Mar; 34():100945. PubMed ID: 36873249
[TBL] [Abstract][Full Text] [Related]
30. Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review.
Rizzi S; Spagnoli C; Frattini D; Pisani F; Fusco C
Behav Neurol; 2022; 2022():2210555. PubMed ID: 36268467
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Aromatic amino Acid decarboxylase deficiency not responding to pyridoxine and bromocriptine therapy: case report and review of response to treatment.
Alfadhel M; Kattan R
J Cent Nerv Syst Dis; 2014 Jan; 6():1-5. PubMed ID: 24453523
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.
Manegold C; Hoffmann GF; Degen I; Ikonomidou H; Knust A; Laass MW; Pritsch M; Wilichowski E; Hörster F
J Inherit Metab Dis; 2009 Jun; 32(3):371-80. PubMed ID: 19172410
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
Brun L; Ngu LH; Keng WT; Ch'ng GS; Choy YS; Hwu WL; Lee WT; Willemsen MA; Verbeek MM; Wassenberg T; Régal L; Orcesi S; Tonduti D; Accorsi P; Testard H; Abdenur JE; Tay S; Allen GF; Heales S; Kern I; Kato M; Burlina A; Manegold C; Hoffmann GF; Blau N
Neurology; 2010 Jul; 75(1):64-71. PubMed ID: 20505134
[TBL] [Abstract][Full Text] [Related]
37. Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency.
François-Heude MC; Poulen G; Flamand Roze E; Nguyen Morel MA; Gras D; Roch-Toreilles I; Quintard A; Baroux G; Meyer P; Coubes P; Milesi C; Cambonie G; Baleine J; Sola C; Delye B; Dimopoulou E; Sanchez S; Gasnier M; Touati S; Zamora A; Pontal D; Leboucq N; Kouyoumdjian V; Lebasnier A; Sanquer S; Mariano-Goulart D; Roujeau T; Roubertie A
Mov Disord Clin Pract; 2023 May; 10(5):811-818. PubMed ID: 37205256
[TBL] [Abstract][Full Text] [Related]
38. Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?
Leuzzi V; Mastrangelo M; Polizzi A; Artiola C; van Kuilenburg AB; Carducci C; Ruggieri M; Barone R; Tavazzi B; Abeling NG; Zoetekouw L; Sofia V; Zappia M; Carducci C
JIMD Rep; 2015; 15():39-45. PubMed ID: 24788355
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Biochemical and computational approaches to improve the clinical treatment of dopa decarboxylase-related diseases: an overview.
Cellini B; Montioli R; Oppici E; Voltattorni CB
Open Biochem J; 2012; 6():131-8. PubMed ID: 23264832
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
