BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

218 related articles for article (PubMed ID: 18378174)

  • 21. 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]  

  • 22. Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.
    Fang X; Zhu X; Feng Y; Bai Y; Zhao X; Liu N; Kong X
    Sci Rep; 2021 Sep; 11(1):18939. PubMed ID: 34556729
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.
    Chinsky J; Appel M; Almashanu S; Costeas P; Ambulos N; Carmi R
    Hum Mutat; 1998; 12(2):136. PubMed ID: 10694918
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
    Margutti AVB; Silva WA; Garcia DF; de Molfetta GA; Marques AA; Amorim T; Prazeres VMG; Boy da Silva RT; Miura IK; Seda Neto J; Santos ES; Santos MLSF; Lourenço CM; Tonon T; Sperb-Ludwig F; de Souza CFM; Schwartz IVD; Camelo JS
    Orphanet J Rare Dis; 2020 Nov; 15(1):309. PubMed ID: 33131499
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.
    Gupta D; Bijarnia-Mahay S; Saxena R; Kohli S; Dua-Puri R; Verma J; Thomas E; Shigematsu Y; Yamaguchi S; Deb R; Verma IC
    Eur J Med Genet; 2015 Sep; 58(9):471-8. PubMed ID: 26257134
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease.
    Wang J; Liu H; Chen G; Tsuei SH; Yu T; Fu Q
    J Pediatr Endocrinol Metab; 2011; 24(9-10):827-9. PubMed ID: 22145486
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Evidence of common ancestry for the maple syrup urine disease (MSUD) Y438N allele in non-Mennonite MSUD patients.
    Love-Gregory LD; Grasela J; Hillman RE; Phillips CL
    Mol Genet Metab; 2002 Jan; 75(1):79-90. PubMed ID: 11825067
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.
    Su L; Lu Z; Li F; Shao Y; Sheng H; Cai Y; Liu L
    Metab Brain Dis; 2017 Jun; 32(3):765-772. PubMed ID: 28197878
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Different gene preferences of maple syrup urine disease in the aboriginal tribes of Taiwan.
    Hou JW; Hwang TL
    Pediatr Neonatol; 2014 Jun; 55(3):213-7. PubMed ID: 24268812
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [Progress of research on Maple syrup disease].
    Yang C; Chen T; Lei X; Liu Y; Xu M; Yang D
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul; 36(7):737-741. PubMed ID: 31302925
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Gene analysis of maple syrup urine disease (MSUD)].
    Mitsubuchi H; Nobukuni Y; Hayashida Y; Ohta K; Indo Y; Akaboshi I; Endo F; Matsuda I
    Rinsho Byori; 1993 May; 41(5):484-91. PubMed ID: 8350511
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Identification of a founder mutation for maple syrup urine disease in Hutterites.
    Mroch A; Davis-Keppen L; Matthes C; Stein Q
    S D Med; 2014 Apr; 67(4):141-3. PubMed ID: 24791375
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Three novel mutations of the
    Yang J; Xiu J; Sun Y; Liu F; Shang X; Li G
    J Pediatr Endocrinol Metab; 2022 Mar; 35(3):303-312. PubMed ID: 34883003
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Analysis of gene mutations in Chinese patients with maple syrup urine disease.
    Yang N; Han L; Gu X; Ye J; Qiu W; Zhang H; Gong Z; Zhang Y
    Mol Genet Metab; 2012 Aug; 106(4):412-8. PubMed ID: 22727569
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.
    Flaschker N; Feyen O; Fend S; Simon E; Schadewaldt P; Wendel U
    J Inherit Metab Dis; 2007 Nov; 30(6):903-9. PubMed ID: 17922217
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.
    Brodtkorb E; Strand J; Backe PH; Lund AM; Bjørås M; Rootwelt T; Rootwelt H; Woldseth B; Eide L
    Mol Genet Metab; 2010 Aug; 100(4):324-32. PubMed ID: 20570198
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. In silico analysis of novel mutations in maple syrup urine disease patients from Iran.
    Abiri M; Karamzadeh R; Mojbafan M; Alaei MR; Jodaki A; Safi M; Kianfar S; Bandehi Sarhaddi A; Noori-Daloii MR; Karimipoor M; Zeinali S
    Metab Brain Dis; 2017 Feb; 32(1):105-113. PubMed ID: 27507644
    [TBL] [Abstract][Full Text] [Related]  

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