371 related articles for article (PubMed ID: 31466887)
1. Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China.
Han B; Nie W; Sun M; Liu Y; Cao Z
Pediatr Neonatol; 2020 Apr; 61(2):148-154. PubMed ID: 31466887
[TBL] [Abstract][Full Text] [Related]
2. [Analysis of the MUT gene mutations in patients with methylmalonic acidemia].
Wang F; Han L; Ye J; Qiu W; Zhang Y; Gao X; Wang Y; Yang Y; Gu X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Oct; 26(5):485-9. PubMed ID: 19806564
[TBL] [Abstract][Full Text] [Related]
3. Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.
Sawangareetrakul P; Ketudat Cairns JR; Vatanavicharn N; Liammongkolkul S; Wasant P; Svasti J; Champattanachai V
Biochem Genet; 2015 Dec; 53(11-12):310-8. PubMed ID: 26370686
[TBL] [Abstract][Full Text] [Related]
4. Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort.
Shafaat M; Alaee MR; Rahmanifar A; Setoodeh A; Razzaghy-Azar M; Bagherian H; Bagheri SD; Zafarghandi Motlagh F; Hashemi M; Abiri M; Zeinali S
Metab Brain Dis; 2018 Oct; 33(5):1689-1697. PubMed ID: 30022420
[TBL] [Abstract][Full Text] [Related]
5. Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.
Han LS; Huang Z; Han F; Ye J; Qiu WJ; Zhang HW; Wang Y; Gong ZW; Gu XF
World J Pediatr; 2015 Nov; 11(4):358-65. PubMed ID: 26454439
[TBL] [Abstract][Full Text] [Related]
6. Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.
Han B; Cao Z; Tian L; Zou H; Yang L; Zhu W; Liu Y
Brain Dev; 2016 May; 38(5):491-7. PubMed ID: 26563984
[TBL] [Abstract][Full Text] [Related]
7. [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; 58(6):468-475. PubMed ID: 32521958
[No Abstract] [Full Text] [Related]
8. Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.
Keyfi F; Abbaszadegan MR; Sankian M; Rolfs A; Orolicki S; Pournasrollah M; Alijanpour M; Varasteh A
Mol Biol Rep; 2019 Feb; 46(1):271-285. PubMed ID: 30712249
[TBL] [Abstract][Full Text] [Related]
9. Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency.
Almási T; Guey LT; Lukacs C; Csetneki K; Vokó Z; Zelei T
Orphanet J Rare Dis; 2019 Apr; 14(1):84. PubMed ID: 31023387
[TBL] [Abstract][Full Text] [Related]
10. Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.
Habibzadeh P; Tabatabaei Z; Farazi Fard MA; Jamali L; Hafizi A; Nikuei P; Salarian L; Nasr Esfahani MH; Anvar Z; Faghihi MA
BMC Med Genet; 2020 Feb; 21(1):22. PubMed ID: 32013889
[TBL] [Abstract][Full Text] [Related]
11. Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L).
Underhill HR; Hahn SH; Hale SL; Merritt JL
Pediatr Int; 2013 Dec; 55(6):e156-8. PubMed ID: 24330302
[TBL] [Abstract][Full Text] [Related]
12. 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; 43(3):409-423. PubMed ID: 31622506
[TBL] [Abstract][Full Text] [Related]
13. [Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia].
Méndez ST; Vela-Amieva M; Velázquez-Arellano A; Ibarra I; Flores ME
Rev Invest Clin; 2012; 64(3):255-61. PubMed ID: 23045948
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
Martínez MA; Rincón A; Desviat LR; Merinero B; Ugarte M; Pérez B
Mol Genet Metab; 2005 Apr; 84(4):317-25. PubMed ID: 15781192
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.
Keeratichamroen S; Cairns JR; Sawangareetrakul P; Liammongkolkul S; Champattanachai V; Srisomsap C; Kamolsilp M; Wasant P; Svasti J
Biochem Genet; 2007 Jun; 45(5-6):421-30. PubMed ID: 17410422
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
