161 related articles for article (PubMed ID: 38116105)
1. 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]
2. 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]
3. Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations.
Montioli R; Janson G; Paiardini A; Bertoldi M; Borri Voltattorni C
IUBMB Life; 2018 Mar; 70(3):215-223. PubMed ID: 29356298
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N; Bertoldi M; Alfadhel M; Alghamdi MA; Anikster Y; Bao X; Bashiri FA; Zeev BB; Bisello G; Ceylan AC; Chien YH; Choy YS; Elsea SH; Flint L; García-Cazorla À; Gijavanekar C; Gümüş EY; Hamad MH; Hişmi B; Honzik T; Hübschmann OK; Hwu WL; Ibáñez-Micó S; Jeltsch K; Juliá-Palacios N; Kasapkara ÇS; Kurian MA; Kusmierska K; Liu N; Ngu LH; Odom JD; Ong WP; Opladen T; Oppeboen M; Pearl PL; Pérez B; Pons R; Rygiel AM; Shien TE; Spaull R; Sykut-Cegielska J; Tabarki B; Tangeraas T; Thöny B; Wassenberg T; Wen Y; Yakob Y; Yin JGC; Zeman J; Blau N
Mol Genet Metab; 2023 Jul; 139(3):107624. PubMed ID: 37348148
[TBL] [Abstract][Full Text] [Related]
6. Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises: A case report.
Thys L; Meuwissen M; Janssens K; Beysen D
Heliyon; 2024 Jan; 10(1):e23746. PubMed ID: 38192810
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment.
Wassenberg T; Geurtz BPH; Monnens L; Wevers RA; Willemsen MA; Verbeek MM
Mol Genet Metab Rep; 2021 Jun; 27():100762. PubMed ID: 33996491
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
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. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.
Brennenstuhl H; Kohlmüller D; Gramer G; Garbade SF; Syrbe S; Feyh P; Kölker S; Okun JG; Hoffmann GF; Opladen T
J Inherit Metab Dis; 2020 May; 43(3):602-610. PubMed ID: 31849064
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]