146 related articles for article (PubMed ID: 38524666)
21. 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]
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; RĂ¼bensam 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. 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]
24. 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]
25. Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl.
Yoldas Celik M; Canda E; Yazici H; Erdem F; Yuksel Yanbolu A; Aykut A; Durmaz A; Anik A; Kalkan Ucar S; Coker M
J Clin Res Pediatr Endocrinol; 2023 Jan; ():. PubMed ID: 36598177
[TBL] [Abstract][Full Text] [Related]
26. AADC deficiency: occurring in humans, modeled in rodents.
Hwu WL; Lee NC; Chien YH; Muramatsu S; Ichinose H
Adv Pharmacol; 2013; 68():273-84. PubMed ID: 24054149
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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]
29. Active site serine-193 modulates activity of human aromatic amino acid decarboxylase.
Bisello G; Rossignoli G; Choi S; Phillips RS; Bertoldi M
Biochem Biophys Res Commun; 2023 Oct; 679():6-14. PubMed ID: 37651872
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.
Montioli R; Cellini B; Borri Voltattorni C
J Inherit Metab Dis; 2011 Dec; 34(6):1213-24. PubMed ID: 21541720
[TBL] [Abstract][Full Text] [Related]
32. A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency.
Caine C; Shohat M; Kim JK; Nakanishi K; Homma S; Mosharov EV; Monani UR
Hum Mol Genet; 2017 Nov; 26(22):4406-4415. PubMed ID: 28973165
[TBL] [Abstract][Full Text] [Related]
33. Symptoms and impact of aromatic l-amino acid decarboxylase (AADC) deficiency: a qualitative study and the development of a patient-centred conceptual model.
Williams K; Skrobanski H; Werner C; O'Neill S; Buesch K; Acaster S
Curr Med Res Opin; 2021 Aug; 37(8):1353-1361. PubMed ID: 34042550
[TBL] [Abstract][Full Text] [Related]
34. Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study.
Park JE; Lee T; Ha K; Cho EH; Ki CS
Pediatr Res; 2023 Nov; 94(5):1764-1770. PubMed ID: 37286773
[TBL] [Abstract][Full Text] [Related]
35. A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency.
Allen GF; Land JM; Heales SJ
Mol Genet Metab; 2009 May; 97(1):6-14. PubMed ID: 19231266
[TBL] [Abstract][Full Text] [Related]
36. Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency.
Lee NC; Shieh YD; Chien YH; Tzen KY; Yu IS; Chen PW; Hu MH; Hu MK; Muramatsu S; Ichinose H; Hwu WL
Neurobiol Dis; 2013 Apr; 52():177-90. PubMed ID: 23275025
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. 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]
39. 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]
40. A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications.
Montioli R; Dindo M; Giorgetti A; Piccoli S; Cellini B; Voltattorni CB
Hum Mol Genet; 2014 Oct; 23(20):5429-40. PubMed ID: 24865461
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]