BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 37248682)

  • 21. Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.
    Jiang HH; Guo Y; Shen X; Wang Y; Dai TT; Rong H; Cheng R; Zhao F
    J Pediatr Endocrinol Metab; 2021 Sep; 34(9):1147-1156. PubMed ID: 34187135
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Domino liver transplantation in maple syrup urine disease.
    Khanna A; Hart M; Nyhan WL; Hassanein T; Panyard-Davis J; Barshop BA
    Liver Transpl; 2006 May; 12(5):876-82. PubMed ID: 16628687
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Two novel mutations in the BCKDHB gene that cause maple syrup urine disease.
    Han B; Han B; Guo B; Liu Y; Cao Z
    Pediatr Neonatol; 2018 Oct; 59(5):515-519. PubMed ID: 29366676
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Successful treatment of severe MSUD in Bckdhb
    Pontoizeau C; Gaborit C; Tual N; Simon-Sola M; Rotaru I; Benoist M; Colella P; Lamazière A; Brassier A; Arnoux JB; Rötig A; Ottolenghi C; de Lonlay P; Mingozzi F; Cavazzana M; Schiff M
    J Inherit Metab Dis; 2024 Jan; 47(1):41-49. PubMed ID: 36880392
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease.
    Nguyen TTN; Vu CD; Nguyen NL; Nguyen TTH; Nguyen NK; Nguyen HH
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1337. PubMed ID: 32515140
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease.
    Zeynalzadeh M; Tafazoli A; Aarabi A; Moghaddassian M; Ashrafzadeh F; Houshmand M; Taghehchian N; Abbaszadegan MR
    J Pediatr Endocrinol Metab; 2018 Jan; 31(2):205-212. PubMed ID: 29306928
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex.
    Chuang DT; Fisher CW; Lau KS; Griffin TA; Wynn RM; Cox RP
    Mol Biol Med; 1991 Feb; 8(1):49-63. PubMed ID: 1943690
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations.
    Narayanan MP; Menon KN; Vasudevan DM
    Indian J Biochem Biophys; 2013 Oct; 50(5):442-6. PubMed ID: 24772966
    [TBL] [Abstract][Full Text] [Related]  

  • 29. In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing.
    Fernández-Lainez C; Aláez-Verson C; Ibarra-González I; Enríquez-Flores S; Carrillo-Sanchez K; Flores-Lagunes L; Guillén-López S; Belmont-Martínez L; Vela-Amieva M
    Clin Chim Acta; 2018 Aug; 483():33-38. PubMed ID: 29673582
    [TBL] [Abstract][Full Text] [Related]  

  • 30. PPM1K defects cause mild maple syrup urine disease: The second case in the literature.
    Ozcelik F; Arslan S; Ozguc Caliskan B; Kardas F; Ozkul Y; Dundar M
    Am J Med Genet A; 2023 May; 191(5):1360-1365. PubMed ID: 36706222
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Heterozygous liver transplantation for maple syrup urine disease: First European reported case.
    Roilides I; Xinias I; Mavroudi A; Ioannou H; Savopoulou P; Imvrios G
    Pediatr Transplant; 2016 Sep; 20(6):846-50. PubMed ID: 27357264
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Domino liver transplantation in maple syrup urine disease: a case report and review of the literature.
    Badell IR; Hanish SI; Hughes CB; Hewitt WR; Chung RT; Spivey JR; Knechtle SJ
    Transplant Proc; 2013 Mar; 45(2):806-9. PubMed ID: 23267808
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Adipose transplant for inborn errors of branched chain amino acid metabolism in mice.
    Zimmerman HA; Olson KC; Chen G; Lynch CJ
    Mol Genet Metab; 2013 Aug; 109(4):345-53. PubMed ID: 23800641
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening.
    Yang C; Linpeng S; Cao Y; Wu L
    Gene; 2019 Aug; 710():9-16. PubMed ID: 31112740
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).
    Wang YP; Qi ML; Li TT; Zhao YJ
    Gene; 2012 Apr; 498(1):112-5. PubMed ID: 22326532
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Paroxysmal spasticity of lower extremities as the initial symptom in two siblings with maple syrup urine disease.
    Liu YD; Chu X; Liu RH; Sun Y; Kong QX; Li QB
    Mol Med Rep; 2019 Jun; 19(6):4872-4880. PubMed ID: 30957186
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.
    Li X; Ding Y; Liu Y; Ma Y; Song J; Wang Q; Li M; Qin Y; Yang Y
    Eur J Med Genet; 2015 Nov; 58(11):617-23. PubMed ID: 26453840
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Production and characterization of murine models of classic and intermediate maple syrup urine disease.
    Homanics GE; Skvorak K; Ferguson C; Watkins S; Paul HS
    BMC Med Genet; 2006 Mar; 7():33. PubMed ID: 16579849
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.
    Pontoizeau C; Simon-Sola M; Gaborit C; Nguyen V; Rotaru I; Tual N; Colella P; Girard M; Biferi MG; Arnoux JB; Rötig A; Ottolenghi C; de Lonlay P; Mingozzi F; Cavazzana M; Schiff M
    Nat Commun; 2022 Jun; 13(1):3278. PubMed ID: 35672312
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Molecular characterization of maple syrup urine disease patients from Tunisia.
    Jaafar N; Moleirinho A; Kerkeni E; Monastiri K; Seboui H; Amorim A; Prata MJ; Quental S
    Gene; 2013 Mar; 517(1):116-9. PubMed ID: 23313820
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.