327 related articles for article (PubMed ID: 31622506)
21. [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]
22. 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; 33 Suppl 3():S435-42. PubMed ID: 20924684
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Investigation and Analysis of Blood Biochemical Indexes and Molecular Biology of Methylmalonic Acidemia.
Song D; Lv Y; Wang H; Ge J; Li T; Chen Y
Clin Lab; 2022 Mar; 68(3):. PubMed ID: 35254044
[TBL] [Abstract][Full Text] [Related]
25. Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
Collado MS; Armstrong AJ; Olson M; Hoang SA; Day N; Summar M; Chapman KA; Reardon J; Figler RA; Wamhoff BR
Mol Genet Metab; 2020 Jul; 130(3):183-196. PubMed ID: 32451238
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Hydrocephalus in cblC type methylmalonic acidemia.
Zhang K; Gao M; Wang G; Shi Y; Li X; Lv Y; Zhang G; Gai Z; Liu Y
Metab Brain Dis; 2019 Apr; 34(2):451-458. PubMed ID: 30564975
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Yu Y; Shuai R; Liang L; Qiu W; Shen L; Wu S; Wei H; Chen Y; Yang C; Xu P; Chen X; Zou H; Feng J; Niu T; Hu H; Ye J; Zhang H; Lu D; Gong Z; Zhan X; Ji W; Gu X; Han L
Mol Genet Genomic Med; 2021 Nov; 9(11):e1822. PubMed ID: 34668645
[TBL] [Abstract][Full Text] [Related]
30. The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Pérez B; Angaroni C; Sánchez-Alcudia R; Merinero B; Pérez-Cerdá C; Specola N; Rodríguez-Pombo P; Wajner M; de Kremer RD; Cornejo V; Desviat LR; Ugarte M
J Inherit Metab Dis; 2010 Oct; 33(Suppl 2):S307-14. PubMed ID: 20549364
[TBL] [Abstract][Full Text] [Related]
31. Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
Chu J; Pupavac M; Watkins D; Tian X; Feng Y; Chen S; Fenter R; Zhang VW; Wang J; Wong LJ; Rosenblatt DS
Mol Genet Metab; 2016 Aug; 118(4):264-71. PubMed ID: 27233228
[TBL] [Abstract][Full Text] [Related]
32. Growth advantage of corrected hepatocytes in a juvenile model of methylmalonic acidemia following liver directed adeno-associated viral mediated nuclease-free genome editing.
Venturoni LE; Chandler RJ; Liao J; Hoffmann V; Ramesh N; Gordo S; Chau N; Venditti CP
Mol Genet Metab; 2022; 137(1-2):1-8. PubMed ID: 35868241
[TBL] [Abstract][Full Text] [Related]
33. Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.
Plessl T; Bürer C; Lutz S; Yue WW; Baumgartner MR; Froese DS
Hum Mutat; 2017 Aug; 38(8):988-1001. PubMed ID: 28497574
[TBL] [Abstract][Full Text] [Related]
34. A novel
Zhang X; Xu X; Shu J; Zhi X; Wang H; Dong Y; Sheng W; Li D; Meng Y; Cai C
Heliyon; 2024 Mar; 10(5):e26912. PubMed ID: 38455531
[TBL] [Abstract][Full Text] [Related]
35. [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]
36. Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemia.
Venturoni LE; Venditti CP
J Inherit Metab Dis; 2022 Sep; 45(5):872-888. PubMed ID: 35766386
[TBL] [Abstract][Full Text] [Related]
37. [Genetic analysis of 21 cases of methylmalonic acidemia].
Wang X; Sun X; Hao S; Liu F; Zhang Q; Zheng L; Zhang C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):362-365. PubMed ID: 35446966
[TBL] [Abstract][Full Text] [Related]
38. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R; Verrigni D; Rasmussen M; de Coo R; Amartino H; Bianchi M; Buhas D; Mesli S; Naess K; Born AP; Woldseth B; Prontera P; Batbayli M; Ravn K; Joensen F; Cordelli DM; Santorelli FM; Tulinius M; Darin N; Duno M; Jouvencel P; Burlina A; Stangoni G; Bertini E; Redonnet-Vernhet I; Wibrand F; Dionisi-Vici C; Uusimaa J; Vieira P; Osorio AN; McFarland R; Taylor RW; Holme E; Ostergaard E
J Inherit Metab Dis; 2016 Mar; 39(2):243-52. PubMed ID: 26475597
[TBL] [Abstract][Full Text] [Related]
39. Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
Hörster F; Tuncel AT; Gleich F; Plessl T; Froese SD; Garbade SF; Kölker S; Baumgartner MR;
J Inherit Metab Dis; 2021 Jan; 44(1):193-214. PubMed ID: 32754920
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]