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Journal Abstract Search

222 related items for 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
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  • 5. 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 01; 15(1):309. PubMed ID: 33131499
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  • 9. 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 01; 191(5):1360-1365. PubMed ID: 36706222
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  • 10. 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 01; 8(8):e1337. PubMed ID: 32515140
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  • 11. Successful treatment of severe MSUD in Bckdhb-/- mice with neonatal AAV gene therapy.
    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 01; 47(1):41-49. PubMed ID: 36880392
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  • 15. 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 03; 53(6):596-601. PubMed ID: 35657820
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  • 17. 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 27; 34(9):1147-1156. PubMed ID: 34187135
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  • 18. Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population.
    Ali EZ, Ngu LH.
    Mol Genet Metab Rep; 2018 Dec 27; 17():22-30. PubMed ID: 30228974
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  • 19. Case report: maple syrup urine disease with a novel DBT gene mutation.
    Feng W, Jia J, Guan H, Tian Q.
    BMC Pediatr; 2019 Dec 13; 19(1):494. PubMed ID: 31830945
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  • 20. 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 13; 28(5-6):673-5. PubMed ID: 25381949
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