BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

214 related articles for article (PubMed ID: 32151765)

  • 1. Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
    Pode-Shakked N; Korman SH; Pode-Shakked B; Landau Y; Kneller K; Abraham S; Shaag A; Ulanovsky I; Daas S; Saraf-Levy T; Reznik-Wolf H; Vivante A; Pras E; Almashanu S; Anikster Y
    Eur J Med Genet; 2020 Jun; 63(6):103901. PubMed ID: 32151765
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
    Khalifa OA; Imtiaz F; Ramzan K; Zaki O; Gamal R; Elbaik L; Rihan S; Salam E; Abdul-Mawgoud R; Hassan M; Hassan N; Saleh E; Seoudi D; Moustafa AS
    Am J Med Genet A; 2020 Nov; 182(11):2486-2500. PubMed ID: 32812330
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.
    Alijanpour M; Jazayeri O; Soleimani Amiri S; Brosens E
    Lab Med; 2022 Nov; 53(6):596-601. PubMed ID: 35657820
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Intermittent maple syrup urine disease: two case reports.
    Axler O; Holmquist P
    Pediatrics; 2014 Feb; 133(2):e458-60. PubMed ID: 24394677
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Case report: maple syrup urine disease with a novel DBT gene mutation.
    Feng W; Jia J; Guan H; Tian Q
    BMC Pediatr; 2019 Dec; 19(1):494. PubMed ID: 31830945
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD).
    Miryounesi M; Ghafouri-Fard S; Goodarzi H; Fardaei M
    J Pediatr Endocrinol Metab; 2015 May; 28(5-6):673-5. PubMed ID: 25381949
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

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

    [Next]    [New Search]
    of 11.