143 related articles for article (PubMed ID: 38302374)
21. 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]
22. Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency.
McCandless SE; Chandrasekar R; Linard S; Kikano S; Rice L
Mol Genet Metab; 2013 Jan; 108(1):51-5. PubMed ID: 23151387
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study.
Lee HC; Lai CK; Yau KC; Siu TS; Mak CM; Yuen YP; Chan KY; Tam S; Lam CW; Chan AY
Clin Chim Acta; 2012 Jan; 413(1-2):126-30. PubMed ID: 21963339
[TBL] [Abstract][Full Text] [Related]
25. A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan.
Lee NC; Chien YH; Hwu WL
Am J Med Genet C Semin Med Genet; 2019 Jun; 181(2):226-229. PubMed ID: 30614627
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. 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]
28. Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
Roubertie A; Opladen T; Brennenstuhl H; Kuseyri Hübschmann O; Flint L; Willemsen MA; Leuzzi V; Cazorla AG; Kurian MA; François-Heude MC; Hwu P; Zeev BB; Kiening K; Roujeau T; Pons R; Pearson TS
J Inherit Metab Dis; 2024 May; 47(3):463-475. PubMed ID: 37402126
[TBL] [Abstract][Full Text] [Related]
29. Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.
Hart K; Rohrwasser A; Wallis H; Golsan H; Shao J; Anderson T; Wang X; Szabo-Fresnais N; Morrissey M; Kay DM; Wojcik M; Galvin-Parton PA; Longo N; Caggana M; Pasquali M
Mol Genet Metab; 2021; 134(1-2):60-64. PubMed ID: 34389248
[TBL] [Abstract][Full Text] [Related]
30. Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area.
Ling TK; Wong KC; Chan CY; Lau NK; Law CY; Lee HH; Lai CK; Chong YK; Yau KE; Cheung KM; Ko CH; Fung CW; Lee LK; Wong SS; Mak CM; Chan AY; Tam S; Lam CW
Clin Chim Acta; 2021 Oct; 521():40-44. PubMed ID: 34161777
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. Burden and severity of disease of aromatic L-amino acid decarboxylase deficiency: a systematic literature review.
Buesch K; Zhang R; Szczepańska K; Veličković V; Turner L; Despotović M; Đorđević B; Russell A
Curr Med Res Opin; 2022 Nov; 38(11):1871-1882. PubMed ID: 35485958
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Next generation sequencing as a follow-up test in an expanded newborn screening programme.
Smon A; Repic Lampret B; Groselj U; Zerjav Tansek M; Kovac J; Perko D; Bertok S; Battelino T; Trebusak Podkrajsek K
Clin Biochem; 2018 Feb; 52():48-55. PubMed ID: 29111448
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
Van Calcar SC; Baker MW; Williams P; Jones SA; Xiong B; Thao MC; Lee S; Yang MK; Rice GM; Rhead W; Vockley J; Hoffman G; Durkin MS
Mol Genet Metab; 2013; 110(1-2):111-5. PubMed ID: 23712021
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.
Rossi C; Cicalini I; Rizzo C; Zucchelli M; Consalvo A; Valentinuzzi S; Semeraro D; Gasparroni G; Brindisino P; Gazzolo D; Dionisi-Vici C; De Laurenzi V; Pieragostino D
Int J Environ Res Public Health; 2020 May; 17(10):. PubMed ID: 32443888
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
