BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

204 related articles for article (PubMed ID: 33478565)

  • 21. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.
    Pons R; Ford B; Chiriboga CA; Clayton PT; Hinton V; Hyland K; Sharma R; De Vivo DC
    Neurology; 2004 Apr; 62(7):1058-65. PubMed ID: 15079002
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins.
    Longo C; Montioli R; Bisello G; Palazzi L; Mastrangelo M; Brennenstuhl H; de Laureto PP; Opladen T; Leuzzi V; Bertoldi M
    Mol Genet Metab; 2021; 134(1-2):147-155. PubMed ID: 34479793
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency.
    Kojima K; Nakajima T; Taga N; Miyauchi A; Kato M; Matsumoto A; Ikeda T; Nakamura K; Kubota T; Mizukami H; Ono S; Onuki Y; Sato T; Osaka H; Muramatsu SI; Yamagata T
    Brain; 2019 Feb; 142(2):322-333. PubMed ID: 30689738
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. 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]  

  • 31. 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]  

  • 32. 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]  

  • 33. Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population.
    Bisello G; Bertoldi M
    Int J Mol Sci; 2022 Sep; 23(19):. PubMed ID: 36232540
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Eladocagene Exuparvovec: First Approval.
    Keam SJ
    Drugs; 2022 Sep; 82(13):1427-1432. PubMed ID: 36103022
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Neurodegenerative Etiology of Aromatic L-Amino Acid Decarboxylase Deficiency: a Novel Concept for Expanding Treatment Strategies.
    Sternberg Z
    Mol Neurobiol; 2024 May; 61(5):2996-3018. PubMed ID: 37953352
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.
    Manegold C; Hoffmann GF; Degen I; Ikonomidou H; Knust A; Laass MW; Pritsch M; Wilichowski E; Hörster F
    J Inherit Metab Dis; 2009 Jun; 32(3):371-80. PubMed ID: 19172410
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises.
    Korenke GC; Christen HJ; Hyland K; Hunneman DH; Hanefeld F
    Eur J Paediatr Neurol; 1997; 1(2-3):67-71. PubMed ID: 10728198
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 11.