References
- Almási T, Guey LT, Lukacs C, Csetneki K, Vokó Z, Zelei T. 2019. 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. Orphanet J Rare Dis. 14(1):84. doi:https://doi.org/10.1186/s13023-019-1063-z.
- Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, et al. 2014. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 9:130.
- Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP. 2009. Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB J. 23(4):1252–1261. doi:https://doi.org/10.1096/fj.08-121848.
- Chen YF, Jia HT, Chen ZH, Song JP, Liang Y, Pei JJ, Wu ZJ, Wang J, Qiu YL, Liu G, et al. 2015. Mutational spectrum of phenylketonuria in Jiangsu province. Eur J Pediatr. 174(10):1333–1338. doi:https://doi.org/10.1007/s00431-015-2539-z
- Fraser JL, Venditti CP. 2016. Methylmalonic and propionic acidemias: clinical management update. Curr Opin Pediatr. 28(6):682–693. doi:https://doi.org/10.1097/MOP.0000000000000422.
- Habibzadeh P, Tabatabaei Z, Farazi Fard MA, Jamali L, Hafizi A, Nikuei P, Salarian L, Nasr Esfahani MH, Anvar Z, Faghihi MA. 2020. Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene. BMC Med Genet. 21(1):22. doi:https://doi.org/10.1186/s12881-020-0959-8.
- Han B, Nie W, Sun M, Liu Y, Cao Z. 2020. Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China. Pediatr Neonatol. 61(2):148–154. doi:https://doi.org/10.1016/j.pedneo.2019.07.004.
- Hao Y, Chen D, Zhang Z, Zhou P, Cao Y, Wei Z, Xu X, Chen B, Zou W, Lv M, et al. 2018. Successful preimplantation genetic diagnosis by targeted next-generation sequencing on an ion torrent personal genome machine platform. Oncol Lett. 15(4):4296–4302.
- Harrington EA, Sloan JL, Manoli I, Chandler RJ, Schneider M, McGuire PJ, Calcedo R, Wilson JM, Venditti CP. 2016. Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia. Hum Gene Ther. 27(5):345–353. doi:https://doi.org/10.1089/hum.2015.092.
- Huang XW, Yang JB, Tong F, Yang RL, Mao HQ, Zhou XL, Huang XL, Yang LL, Huang CG, Zhao ZY. 2011. [Screening for neonatal inborn errors of metabolism by electrospray ionization-tandem mass spectrometry and follow-up]. Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics. 49(10):765–770.
- Imataka G, Sakamoto O, Yamanouchi H, Yoshihara S, Omura-Hasegawa Y, Tajima G, Arisaka O. 2013. Novel c.2216T > C (p.I739T) mutation in exon 13 and c.1481T > A (p.L494X) mutation in exon 8 of MUT gene in a female with methylmalonic acidemia. Cell Biochem Biophys. 67(1):185–187. doi:https://doi.org/10.1007/s12013-013-9532-9.
- Ji X, Wang H, Ye J, Qiu W, Zhang H, Liang L, Xiao B, Dai M, Xu Y, Chen T, et al. 2019a. Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches. Prenat Diagn. 39(11):993–997. doi:https://doi.org/10.1002/pd.5519
- Ji X, Zhang Z, Shi J, He B. 2019b. Clinical application of NGS-based SNP haplotyping for the preimplantation genetic diagnosis of primary open angle glaucoma. Syst Biol Reprod Med. 65(3):258–263. doi:https://doi.org/10.1080/19396368.2019.1590479.
- Jiang YZ, Sun LY, Zhu ZJ, Wei L, Qu W, Zeng ZG, Liu Y, Tan YL, He EH, Xu RF, et al. 2019. Perioperative characteristics and management of liver transplantation for isolated methylmalonic acidemia-the largest experience in China. Hepatobiliary Surg Nutr. 8(5):470–479. doi:https://doi.org/10.21037/hbsn.2019.03.04
- Li H, Durbin R. 2010. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 26(5):589–595. doi:https://doi.org/10.1093/bioinformatics/btp698.
- Masset H, Zamani Esteki M, Dimitriadou E, Dreesen J, Debrock S, Derhaag J, Derks K, Destouni A, Drüsedau M, Meekels J, et al. 2019. Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing. Human Reprod. 34(8):1608–1619. doi:https://doi.org/10.1093/humrep/dez106
- Priner S, Altarescu G, Schonberger O, Holzer H, Rubinstein E, Dekel N, Peretz A, Eldar-Geva T. 2019. The effect of repeated biopsy on pre-implantation genetic testing for monogenic diseases (PGT-M) treatment outcome. J Assist Reprod Genet. 36(1):159–164. doi:https://doi.org/10.1007/s10815-018-1359-2.
- Renwick PJ, Trussler J, Ostad-Saffari E, Fassihi H, Black C, Braude P, Ogilvie CM, Abbs S. 2006. Proof of principle and first cases using preimplantation genetic haplotyping–a paradigm shift for embryo diagnosis. Reprod Biomed Online. 13(1):110–119. doi:https://doi.org/10.1016/S1472-6483(10)62024-X.
- Tanacan A, Gurbuz BB, Aydin E, Erden M, Coskun T, Beksac MS. 2019. Prenatal Diagnosis of Organic Acidemias at a Tertiary Center. Balkan J Med Genet. 22(1):29–34. doi:https://doi.org/10.2478/bjmg-2019-0003.
- Tu WJ, Chen H, He J. 2013. Methylmalonic aciduria: newborn screening in mainland China? J Pediatr Endocrinol Metab. 26(3–4):399–400. doi:https://doi.org/10.1515/jpem-2012-0276.