188 related articles for article (PubMed ID: 37248539)
1. Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach.
Maryami F; Rismani E; Davoudi-Dehaghani E; Khalesi N; Motlagh FZ; Kordafshari A; Talebi S; Rahimi H; Zeinali S
Hereditas; 2023 May; 160(1):25. PubMed ID: 37248539
[TBL] [Abstract][Full Text] [Related]
2. High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.
Illson ML; Dempsey-Nunez L; Kent J; Huang Q; Brebner A; Raff ML; Watkins D; Gilfix BM; Wittwer CT; Rosenblatt DS
Mol Genet Metab; 2013; 110(1-2):86-9. PubMed ID: 23707710
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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; 19(1):114. PubMed ID: 29996803
[TBL] [Abstract][Full Text] [Related]
5. Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.
Forny P; Plessl T; Frei C; Bürer C; Froese DS; Baumgartner MR
Hum Genet; 2022 Jul; 141(7):1253-1267. PubMed ID: 34796408
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.
Keyfi F; Sankian M; Moghaddassian M; Rolfs A; Varasteh AR
Gene; 2016 Jan; 576(1 Pt 2):208-13. PubMed ID: 26449400
[TBL] [Abstract][Full Text] [Related]
8. Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.
Vatanavicharn N; Champattanachai V; Liammongkolkul S; Sawangareetrakul P; Keeratichamroen S; Ketudat Cairns JR; Srisomsap C; Sathienkijkanchai A; Shotelersuk V; Kamolsilp M; Wattanasirichaigoon D; Svasti J; Wasant P
Mol Genet Metab; 2012 Aug; 106(4):424-9. PubMed ID: 22695176
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. [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]
11. 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]
12. 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]
13. 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]
14. 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]
15. Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia.
Maryami F; Davoudi-Dehaghani E; Khalesi N; Rismani E; Rahimi H; Talebi S; Zeinali S
Mol Genet Genomics; 2023 Jul; 298(4):905-917. PubMed ID: 37131081
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. [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]
19. Impaired Function of a Rare Mutation in the
Dai S; Yang Y; Li Y; Liu H
Genet Res (Camb); 2022; 2022():5611697. PubMed ID: 35919035
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]