[1] |
Tu WJ.Methylmalonic acidemia in mainland China[J]. Ann Nutr Metab, 2011, 58(4): 281.
|
[2] |
郭克建,周旋,陈西贵, 等. 济宁地区48297例新生儿串联质谱法遗传代谢疾病筛查的应用[J]. 中国优生与遗传杂志, 2017, 25(6): 77-79.
|
[3] |
盛志强,满宜刚.17β-羟基类固醇脱氢酶10病的临床诊断并文献复习[J/CD]. 中华诊断学电子杂志, 2015, 3(4): 271-273.
|
[4] |
葛娟,乔凌燕,李堂. 甲基丙二酸血症发病和诊治及预后的研究进展[J]. 中国儿童保健杂志, 2017, 25(3): 258-264.
|
[5] |
Forny P,Schnellmann AS,Buerer C, et al.Molecular genetic characterization of 151 mut-type methylmalonic aciduria patients and identification of 41 novel mutations in MUT [J]. Hum Mutat, 2016, 37(8): 745-754.
|
[6] |
Plessl T,Bürer C,Lutz S, et al.Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria [J]. Hum Mutat, 2017, 38(8): 988-1001.
|
[7] |
Brasil S,Richard E,Jorge-Finnigan A, et al.Methylmalonic aciduria cblB type:characterization of two novel mutations and mitochondrial dysfunction studies [J]. Clin Genet, 2015, 87(6): 576-581.
|
[8] |
郑雷,童凡. 影响甲基丙二酸血症患儿临床疗效及预后的分子生物学机制分析[J]. 中国儿童保健杂志, 2015, 23(11): 1169-1171.
|
[9] |
Manoli I,Sloan JL,Venditti CP.Isolated Methylmalonic Acidemia[M]. Seattle: University of Washington, 2016.
|
[10] |
Liu MY,Yang YL,Chang YC, et al.Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homoystinuria[J]. J Hum Genet, 2010, 55(9): 621-626.
|
[11] |
Froese DS,Kopec J,Fitzpatrick F, et al.Structural insights into the MMACHC-MMADHC protein complex involved in vitamin B12 trafficking [J]. J Biol Chem, 2015, 290(49): 29167-29177.
|
[12] |
Bassila C,Ghemrawi R,Flayac J, et al.Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC[J]. Biochim Biophys Acta, 2017, 1863(1): 103-112.
|
[13] |
卢东裕,田明新,张道杰.56例甲基丙二酸血症患儿的临床和串联质谱及气相色谱数据分析[J]. 中国优生与遗传杂志, 2015, 23(10): 15-19.
|
[14] |
Keyfi F,Talebi S,Varasteh AR.Methylmalonic acidemia diagnosis by laboratory methods[J]. Rep Biochem Mol Biol, 2016, 5(1): 1-14.
|
[15] |
Chandler RJ,Venditti CP.Genetic and genomic systems to study methylmalonic acidemia[J]. Mol Genet Metab, 2005, 86(1-2): 34-43.
|
[16] |
Froese DS,Zhang J,Healy S, et al.Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria[J]. Mol Genet Metab, 2009, 98(4): 338-343.
|
[17] |
Pela I,Gasperini S,Pasquini E, et al.Hyperkalemia after acute metabolic decompensation in two children with vitamin B12-unresponsive methylmalonic acidemia and normal renal function[J]. Clin Nephrol, 2006, 66(1): 63-66.
|
[18] |
Aldubayan SH,Rodan LH,Berry GT, et al.Acute illness protocol for organic acidemias:methylmalonic acidemia and propionic acidemia[J]. Pediatr Emerg Care, 2017, 33(2): 142-146.
|
[19] |
黄倬,韩连书,叶军, 等. 甲基丙二酸血症合并同型半胱氨酸尿症患者治疗效果分析[J]. 中华儿科杂志, 2013, 51(3): 194-198.
|
[20] |
Ribas GS,Manfredini V,de Marco MG, et al.Prevention by l-carnitine of DNA damage induced by propionic and l-methylmalonic acids in human peripheral leukocytes in vitro [J]. Mutat Res, 2010, 702(1): 123-128.
|
[21] |
陈适,刘慧婷,朱慧娟, 等. 从低钠血症看代谢性疾病的诊断思路[J/CD]. 中华诊断学电子杂志, 2014, 2(2): 118-120.
|