BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 33763332)

  • 1. Evaluation of 3-
    Kubaski F; Herbst ZM; Pereira DAA; Silva C; Chen C; Hwu PWL; van der Linden H; Lourenço CM; Giugliani R
    Mol Genet Metab Rep; 2021 Jun; 27():100744. PubMed ID: 33763332
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots.
    Chen PW; Lee NC; Chien YH; Wu JY; Wang PC; Hwu WL
    Clin Chim Acta; 2014 Apr; 431():19-22. PubMed ID: 24513538
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
    Reischl-Hajiabadi AT; Okun JG; Kohlmüller D; Manukjan G; Hegert S; Durner J; Schuhmann E; Hörster F; Mütze U; Feyh P; Hoffmann GF; Röschinger W; Janzen N; Opladen T
    Mol Genet Metab; 2024 Mar; 141(3):108148. PubMed ID: 38302374
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders.
    Rizzi S; Spagnoli C; Bellini M; Cesaroni CA; Spezia E; Bergonzini P; Caramaschi E; Soliani L; Turco EC; Piccolo B; Demuth L; Cordelli DM; Biasucci G; Frattini D; Fusco C
    Genes (Basel); 2023 Sep; 14(9):. PubMed ID: 37761968
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiency.
    Chen PW; Hwu WL; Lee NC; Chien YH
    Mol Genet Metab; 2023; 140(1-2):107687. PubMed ID: 37635029
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report.
    Wang H; Li J; Zhou J; Dai L; Ding C; Li M; Feng W; Fang F; Ren X; Wang X
    Front Neurol; 2022; 13():919583. PubMed ID: 36119679
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders.
    Santa Paola S; Di Blasi FD; Borgione E; Lo Giudice M; Giuliano M; Pettinato R; Di Stefano V; Brighina F; Lupica A; Scuderi C
    Genes (Basel); 2024 Jan; 15(1):. PubMed ID: 38275615
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency.
    Di Carlo E; Santagata S; Sauro L; Tolve M; Manti F; Leuzzi V; Angeloni A; Carducci C
    J Chromatogr B Analyt Technol Biomed Life Sci; 2021 Nov; 1185():122999. PubMed ID: 34715572
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.