BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

321 related articles for article (PubMed ID: 31622506)

  • 41. Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria.
    Kong XD; Shi HR; Liu N; Wu QH; Xu XJ; Zhao ZH; Lu N; Li-Ling J; Luo D
    Genet Mol Res; 2014 Oct; 13(4):8234-40. PubMed ID: 25299208
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
    Pillai NR; Stroup BM; Poliner A; Rossetti L; Rawls B; Shayota BJ; Soler-Alfonso C; Tunuguntala HP; Goss J; Craigen W; Scaglia F; Sutton VR; Himes RW; Burrage LC
    Mol Genet Metab; 2019 Dec; 128(4):431-443. PubMed ID: 31757659
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.
    Dündar H; Özgül RK; Güzel-Ozantürk A; Dursun A; Sivri S; Aliefendioğlu D; Coşkun T; Tokatli A
    Mol Genet Metab; 2012 Aug; 106(4):419-23. PubMed ID: 22727635
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
    Merinero B; Pérez B; Pérez-Cerdá C; Rincón A; Desviat LR; Martínez MA; Sala PR; García MJ; Aldamiz-Echevarría L; Campos J; Cornejo V; Del Toro M; Mahfoud A; Martínez-Pardo M; Parini R; Pedrón C; Peña-Quintana L; Pérez M; Pourfarzam M; Ugarte M
    J Inherit Metab Dis; 2008 Feb; 31(1):55-66. PubMed ID: 17957493
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.
    Haarmann A; Mayr M; Kölker S; Baumgartner ER; Schnierda J; Hopfer H; Devuyst O; Baumgartner MR
    Mol Genet Metab; 2013 Dec; 110(4):472-6. PubMed ID: 24095221
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Late-onset cblC defect: clinical, biochemical and molecular analysis.
    Ding S; Ling S; Liang L; Qiu W; Zhang H; Chen T; Zhan X; Xu F; Gu X; Han L
    Orphanet J Rare Dis; 2023 Sep; 18(1):306. PubMed ID: 37770946
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.
    Liu Y; Li X; Wang Q; Ding Y; Song J; Yang Y
    Brain Dev; 2016 Jan; 38(1):61-7. PubMed ID: 26028457
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.
    Lempp TJ; Suormala T; Siegenthaler R; Baumgartner ER; Fowler B; Steinmann B; Baumgartner MR
    Mol Genet Metab; 2007 Mar; 90(3):284-90. PubMed ID: 17113806
    [TBL] [Abstract][Full Text] [Related]  

  • 49. [Clinical and variant analysis of 15 patients with methylmalonic acidemia].
    Xiong H; Deng W; Guo L; Shi C; Xiao X; Hao H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Dec; 36(12):1158-1162. PubMed ID: 31813137
    [TBL] [Abstract][Full Text] [Related]  

  • 50. [Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia].
    Xie B; Luo J; Fan X; Chen R; Wang J; Zhang S; Li W; Chen S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):135-9. PubMed ID: 27060300
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia.
    Han LS; Huang Z; Han F; Wang Y; Gong ZW; Gu XF
    World J Pediatr; 2017 Aug; 13(4):381-386. PubMed ID: 28101778
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
    Acquaviva C; Benoist JF; Pereira S; Callebaut I; Koskas T; Porquet D; Elion J
    Hum Mutat; 2005 Feb; 25(2):167-76. PubMed ID: 15643616
    [TBL] [Abstract][Full Text] [Related]  

  • 53. [Analysis of propionylcarnitine in blood and methylmalonic acid in urine of 162 patients with methylmalonic acidemia].
    Wu SN; Han LS; Ye J; Qiu WJ; Zhang HW; Gao XL; Wang Y; Li XY; Xu H; Gu XF
    Zhonghua Yi Xue Za Zhi; 2013 Feb; 93(8):561-5. PubMed ID: 23663331
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Clinical characteristics and gene mutation analysis of methylmalonic aciduria.
    Yi Q; Lv J; Tian F; Wei H; Ning Q; Luo X
    J Huazhong Univ Sci Technolog Med Sci; 2011 Jun; 31(3):384-389. PubMed ID: 21671183
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.
    Wongkittichote P; Cunningham G; Summar ML; Pumbo E; Forny P; Baumgartner MR; Chapman KA
    Mol Genet Metab; 2019 Dec; 128(4):444-451. PubMed ID: 31648943
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying gene c.609G>A mutation.
    Yu Y; Ling S; Shuai R; Qiu W; Zhang H; Liang L; Ji W; Liu Y; Gu X; Han L
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2021 Aug; 50(4):436-443. PubMed ID: 34704411
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.
    Devi AR; Naushad SM
    Clin Biochem; 2017 Jan; 50(1-2):68-72. PubMed ID: 27591164
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia.
    Wang F; Liang L; Ling S; Yu Y; Chen T; Xu F; Gong Z; Han L
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2022 Jun; 51(3):298-305. PubMed ID: 36207831
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Isolated methylmalonic acidemia: a case report.
    Es Sadki T; Badiou S; Boubal M; Baleine J; Sieso V; Vallat C; Cristol JP; Vianey-Saban C; Cambonie G
    Ann Biol Clin (Paris); 2016 Aug; 74(4):472-6. PubMed ID: 27492701
    [TBL] [Abstract][Full Text] [Related]  

  • 60. [Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing].
    Zhao G; Chen C; Zhao X; Liu L; Wang C; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jul; 39(7):694-697. PubMed ID: 35810423
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 17.