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Journal Abstract Search

244 related items for PubMed ID: 32521958

  • 1. [The phenotypes and genotypes in 314 patients with isolated methylmalonic acidemia].
    Kang LL, Liu YP, Shen M, Chen ZH, Song JQ, He RX, Liu Y, Zhang Y, Dong H, Li MQ, Jin Y, Zheng H, Wang Q, Ding Y, Li XY, Li DX, Li HX, Liu XQ, Xiao HJ, Jiang YW, Xiong H, Zhang CY, Wang ZX, Yuan Y, Liang DS, Tian YP, Yang YL.
    Zhonghua Er Ke Za Zhi; 2020 Jun 02; 58(6):468-475. PubMed ID: 32521958
    [Abstract] [Full Text] [Related]

  • 2. A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
    Kang L, Liu Y, Shen M, Liu Y, He R, Song J, Jin Y, Li M, Zhang Y, Dong H, Liu X, Yan H, Qin J, Zheng H, Chen Y, Li D, Wei H, Zhang H, Sun L, Zhu Z, Liang D, Yang Y.
    J Inherit Metab Dis; 2020 May 02; 43(3):409-423. PubMed ID: 31622506
    [Abstract] [Full Text] [Related]

  • 3.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Manoli I, Sloan JL, Venditti CP.
    ; 1993 May 02. PubMed ID: 20301409
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  • 9. Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia.
    Şeker Yılmaz B, Kor D, Bulut FD, Kılavuz S, Ceylaner S, Önenli Mungan HN.
    Turk J Med Sci; 2021 Jun 28; 51(3):1220-1228. PubMed ID: 33453710
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  • 11. [Clinical features and follow-up study on 55 patients with adolescence-onset methylmalonic acidemia].
    Ma X, Chen ZH, Zhang HT, He RX, Wang Q, Ding Y, Song JQ, Jin Y, Li MQ, Dong H, Zhang Y, Lu M, Lu XP, Cao HQ, Wang YQ, Chen YX, Zheng H, Yang YL.
    Zhonghua Er Ke Za Zhi; 2024 Jun 02; 62(6):520-525. PubMed ID: 38763872
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  • 12. Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
    Wang F, Han L, Yang Y, Gu X, Ye J, Qiu W, Zhang H, Zhang Y, Gao X, Wang Y.
    J Inherit Metab Dis; 2010 Dec 02; 33 Suppl 3():S435-42. PubMed ID: 20924684
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  • 14. Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.
    Lin Y, Lin C, Lin W, Zheng Z, Han M, Fu Q.
    BMC Med Genet; 2018 Jul 11; 19(1):114. PubMed ID: 29996803
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  • 15. [Clinical and genetic studies on 76 patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria].
    He RX, Dong H, Zhang HW, Zhang Y, Kang LL, Li H, Shen M, Mo R, Song JQ, Liu YP, Chen ZH, Liu Y, Jin Y, Li MQ, Zheng H, Li DX, Qin J, Zhang HF, Huang M, Zheng RX, Liang DS, Tian YP, Yao HX, Yang YL.
    Zhonghua Er Ke Za Zhi; 2021 Jun 02; 59(6):459-465. PubMed ID: 34102818
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  • 18. Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.
    Su L, Sheng H, Li X, Cai Y, Mei H, Cheng J, Li D, Lu Z, Lin Y, Chen X, Peng M, Huang Y, Zhang W, Liu L.
    Orphanet J Rare Dis; 2024 May 15; 19(1):198. PubMed ID: 38750596
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