210 related articles for article (PubMed ID: 31703131)
1. [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]
2. 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]
3. 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]
4. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.
Pons R; Ford B; Chiriboga CA; Clayton PT; Hinton V; Hyland K; Sharma R; De Vivo DC
Neurology; 2004 Apr; 62(7):1058-65. PubMed ID: 15079002
[TBL] [Abstract][Full Text] [Related]
5. Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.
Atwal PS; Donti TR; Cardon AL; Bacino CA; Sun Q; Emrick L; Reid Sutton V; Elsea SH
Mol Genet Metab; 2015; 115(2-3):91-4. PubMed ID: 25956449
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. [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]
15. 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]
16. Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises.
Korenke GC; Christen HJ; Hyland K; Hunneman DH; Hanefeld F
Eur J Paediatr Neurol; 1997; 1(2-3):67-71. PubMed ID: 10728198
[TBL] [Abstract][Full Text] [Related]
17. Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency.
Lee WT; Lin JH; Weng WC; Peng SS
Hum Brain Mapp; 2017 Mar; 38(3):1532-1540. PubMed ID: 27859928
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]