These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (PubMed ID: 19520530)

  • 41. When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase.
    Portaro S; Gugliandolo A; Scionti D; Cammaroto S; Morabito R; Leonardi S; Fraggetta F; Bramanti P; Mazzon E
    Medicine (Baltimore); 2018 Jun; 97(22):e10953. PubMed ID: 29851841
    [TBL] [Abstract][Full Text] [Related]  

  • 42. 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]  

  • 43. Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox.
    Wassenberg T; Willemsen MA; Geurtz PB; Lammens M; Verrijp K; Wilmer M; Lee WT; Wevers RA; Verbeek MM
    Mol Genet Metab; 2010 Dec; 101(4):349-56. PubMed ID: 20832343
    [TBL] [Abstract][Full Text] [Related]  

  • 44. 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]  

  • 45. Gene therapy for aromatic L-amino acid decarboxylase deficiency.
    Zwagerman NT; Richardson RM
    Neurosurgery; 2012 Oct; 71(4):N10-2. PubMed ID: 22989964
    [No Abstract]   [Full Text] [Related]  

  • 46. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
    Wassenberg T; Molero-Luis M; Jeltsch K; Hoffmann GF; Assmann B; Blau N; Garcia-Cazorla A; Artuch R; Pons R; Pearson TS; Leuzzi V; Mastrangelo M; Pearl PL; Lee WT; Kurian MA; Heales S; Flint L; Verbeek M; Willemsen M; Opladen T
    Orphanet J Rare Dis; 2017 Jan; 12(1):12. PubMed ID: 28100251
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Estimating the prevalence of ultra-rare inherited metabolic disorders: Aromatic amino acid decarboxylase (AADC) deficiency.
    Blau N
    Mol Genet Metab; 2024 Mar; 141(3):108150. PubMed ID: 38302375
    [No Abstract]   [Full Text] [Related]  

  • 48. Monoamine neurotransmitter deficiencies.
    Pearl PL
    Handb Clin Neurol; 2013; 113():1819-25. PubMed ID: 23622404
    [TBL] [Abstract][Full Text] [Related]  

  • 49. [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]  

  • 50. 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]  

  • 51. [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]  

  • 52. 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]  

  • 53. 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]  

  • 54. 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]  

  • 55. Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies.
    Rossignoli G; Krämer K; Lugarà E; Alrashidi H; Pope S; De La Fuente Barrigon C; Barwick K; Bisello G; Ng J; Counsell J; Lignani G; Heales SJR; Bertoldi M; Barral S; Kurian MA
    Brain; 2021 Sep; 144(8):2443-2456. PubMed ID: 33734312
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis.
    Hyland K; Surtees RA; Rodeck C; Clayton PT
    Neurology; 1992 Oct; 42(10):1980-8. PubMed ID: 1357595
    [TBL] [Abstract][Full Text] [Related]  

  • 57. 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]  

  • 58. 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]  

  • 59. Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency.
    Lee NC; Muramatsu S; Chien YH; Liu WS; Wang WH; Cheng CH; Hu MK; Chen PW; Tzen KY; Byrne BJ; Hwu WL
    Mol Ther; 2015 Oct; 23(10):1572-81. PubMed ID: 26137853
    [TBL] [Abstract][Full Text] [Related]  

  • 60. 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]  

    [Previous]   [Next]    [New Search]
    of 12.