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 *

143 related articles for article (PubMed ID: 34883003)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. [Maple syrup urine disease caused by two novel BCKDHB gene mutations in a Chinese neonate].
    Shen Y; Gong X; Yan J; Qin L; Qiu G
    Zhonghua Er Ke Za Zhi; 2015 Jan; 53(1):66-70. PubMed ID: 25748408
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.
    Li X; Yang Y; Gao Q; Gao M; Lv Y; Dong R; Liu Y; Zhang K; Gai Z
    Metab Brain Dis; 2018 Jun; 33(3):741-751. PubMed ID: 29307017
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. Molecular basis of various forms of maple syrup urine disease in Chilean patients.
    Campanholi DRR; Margutti AVB; Silva WA; Garcia DF; Molfetta GA; Marques AA; Schwartz IVD; Cornejo V; Hamilton V; Castro G; Sperb-Ludwig F; Borges ES; Camelo JS
    Mol Genet Genomic Med; 2021 May; 9(5):e1616. PubMed ID: 33955723
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.
    Tresbach RH; Sperb-Ludwig F; Ligabue-Braun R; Bitencourt FH; Tonon T; Souza CFM; Poswar FO; Leite MEQ; Amorim T; Porta G; Seda Neto J; Miura IK; Steiner CE; Martins AM; Pessoa ALS; Ribeiro EM; Schwartz IVD
    Mol Genet Metab; 2024; 143(1-2):108569. PubMed ID: 39270351
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.
    Sun WH; Wu BB; Wang YQ; Wu MY; Dong XR; Zhang YP; Lu W; Zhang P; Yang B; Zhang M; Wu HJ; Zhou WH
    World J Pediatr; 2020 Aug; 16(4):401-410. PubMed ID: 32193832
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Fourteen new mutations of
    Ali EZ; Ngu LH
    Mol Genet Metab Rep; 2018 Dec; 17():22-30. PubMed ID: 30228974
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.
    Park HD; Lee DH; Hong YH; Kang DH; Lee YK; Song J; Lee SY; Kim JW; Ki CS; Lee YW
    Ann Clin Lab Sci; 2011; 41(2):167-73. PubMed ID: 21844576
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β.
    Bashyam MD; Chaudhary AK; Sinha M; Nagarajaram HA; Devi AR; Bashyam L; Reddy EC; Dalal A
    J Cell Biochem; 2012 Oct; 113(10):3122-32. PubMed ID: 22593002
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.