161 related articles for article (PubMed ID: 35575170)
21. 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]
22. Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry.
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; 2022 Sep; 32():100888. PubMed ID: 35769135
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders.
Rizzi S; Spagnoli C; Bellini M; Cesaroni CA; Spezia E; Bergonzini P; Caramaschi E; Soliani L; Turco EC; Piccolo B; Demuth L; Cordelli DM; Biasucci G; Frattini D; Fusco C
Genes (Basel); 2023 Sep; 14(9):. PubMed ID: 37761968
[TBL] [Abstract][Full Text] [Related]
26. Anesthesia Management for Cesarean Delivery in a Woman With Aromatic L-Amino Acid Decarboxylase Deficiency: A Case Report.
Viviani C; Buelli E; Fierro G; Stiffan S; Lorini FL
A A Pract; 2020 Aug; 14(10):e01275. PubMed ID: 32845099
[TBL] [Abstract][Full Text] [Related]
27. The impact of caring for an individual with aromatic l-amino acid decarboxylase (AADC) deficiency: a qualitative study and the development of a conceptual model.
Skrobanski H; Williams K; Werner C; O'Neill S; Buesch K; Acaster S
Curr Med Res Opin; 2021 Oct; 37(10):1821-1828. PubMed ID: 34259573
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus.
Fusco C; Leuzzi V; Striano P; Battini R; Burlina A; ; Spagnoli C
Ital J Pediatr; 2021 Jan; 47(1):13. PubMed ID: 33478565
[TBL] [Abstract][Full Text] [Related]
31. 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.
Chien YH; Chen PW; Lee NC; Hsieh WS; Chiu PC; Hwu WL; Tsai FJ; Lin SP; Chu SY; Jong YJ; Chao MC
Mol Genet Metab; 2016 Aug; 118(4):259-63. PubMed ID: 27216367
[TBL] [Abstract][Full Text] [Related]
32. AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
Pearson TS; Gilbert L; Opladen T; Garcia-Cazorla A; Mastrangelo M; Leuzzi V; Tay SKH; Sykut-Cegielska J; Pons R; Mercimek-Andrews S; Kato M; Lücke T; Oppebøen M; Kurian MA; Steel D; Manti F; Meeks KD; Jeltsch K; Flint L
J Inherit Metab Dis; 2020 Sep; 43(5):1121-1130. PubMed ID: 32369189
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. [Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency].
Wang Y; Ke Z; Zou H; Lin M; Qiu M; Gu W; Chen Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov; 36(11):1085-1089. PubMed ID: 31703131
[TBL] [Abstract][Full Text] [Related]
35. Selective Serotonin Reuptake Inhibitor Treatment Post Gene Therapy for an Ultrarare Neurometabolic Disorder (AADC Deficiency).
Baribeau DA; Vorstman JAS; Pearson TS
J Am Acad Child Adolesc Psychiatry; 2024 Jun; 63(6):571-573. PubMed ID: 38460745
[TBL] [Abstract][Full Text] [Related]
36. 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
Brain; 2019 Feb; 142(2):322-333. PubMed ID: 30689738
[TBL] [Abstract][Full Text] [Related]
37. Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations.
Pappan KL; Kennedy AD; Magoulas PL; Hanchard NA; Sun Q; Elsea SH
Pediatr Neurol; 2017 Oct; 75():66-72. PubMed ID: 28823629
[TBL] [Abstract][Full Text] [Related]
38. Evaluation of 3-
Kubaski F; Herbst ZM; Pereira DAA; Silva C; Chen C; Hwu PWL; van der Linden H; Lourenço CM; Giugliani R
Mol Genet Metab Rep; 2021 Jun; 27():100744. PubMed ID: 33763332
[TBL] [Abstract][Full Text] [Related]
39. 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
Mol Genet Metab; 2019 Jun; 127(2):132-137. PubMed ID: 31104889
[TBL] [Abstract][Full Text] [Related]
40. [Anesthetic Care of Children With Gene Therapy for the Treatment of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency].
Li WC; Fan SZ
Hu Li Za Zhi; 2019 Feb; 66(1):107-114. PubMed ID: 30648251
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
