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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1968 1
1969 3
1972 1
1973 1
1974 2
1975 2
1976 2
1979 3
1980 2
1981 1
1982 1
1983 1
1986 1
1988 1
1990 1
1991 2
1992 1
1994 4
1995 1
1996 1
1998 2
1999 1
2003 2
2004 1
2005 2
2006 2
2007 2
2008 2
2009 3
2010 3
2011 7
2012 6
2013 8
2014 6
2015 13
2016 9
2017 6
2018 7
2019 12
2020 7
2021 10
2022 12
2023 7
2024 2

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145 results

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Page 1
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia.
An D, Schneller JL, Frassetto A, Liang S, Zhu X, Park JS, Theisen M, Hong SJ, Zhou J, Rajendran R, Levy B, Howell R, Besin G, Presnyak V, Sabnis S, Murphy-Benenato KE, Kumarasinghe ES, Salerno T, Mihai C, Lukacs CM, Chandler RJ, Guey LT, Venditti CP, Martini PGV. An D, et al. Cell Rep. 2017 Dec 19;21(12):3548-3558. doi: 10.1016/j.celrep.2017.11.081. Cell Rep. 2017. PMID: 29262333 Free PMC article.
Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. ...
Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical …
Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.
Vockley J, Burton B, Jurecka A, Ganju J, Leiro B, Zori R, Longo N. Vockley J, et al. Mol Genet Metab. 2023 Jul;139(3):107612. doi: 10.1016/j.ymgme.2023.107612. Epub 2023 May 21. Mol Genet Metab. 2023. PMID: 37245378 Free article. Review.
Clinical trial development in rare diseases poses significant study design and methodology challenges, such as disease heterogeneity and appropriate patient selection, identification and selection of key endpoints, decisions on study duration, choice of control grou …
Clinical trial development in rare diseases poses significant study design and methodology challenges, such as disease heterog …
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. Yu Y, et al. Mol Genet Genomic Med. 2021 Nov;9(11):e1822. doi: 10.1002/mgg3.1822. Epub 2021 Oct 20. Mol Genet Genomic Med. 2021. PMID: 34668645 Free PMC article.
Gene Therapy for Methylmalonic Acidemia: Past, Present, and Future.
Chandler RJ, Venditti CP. Chandler RJ, et al. Hum Gene Ther. 2019 Oct;30(10):1236-1244. doi: 10.1089/hum.2019.113. Epub 2019 Aug 16. Hum Gene Ther. 2019. PMID: 31303064 Free PMC article. Review.
Methylmalonic acidemia (MMA) is a severe, and sometimes lethal, monogenic metabolic disorder in need of improved treatments. ...
Methylmalonic acidemia (MMA) is a severe, and sometimes lethal, monogenic metabolic disorder in need of improved treatments. . …
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP. Manoli I, et al. J Inherit Metab Dis. 2023 Jul;46(4):554-572. doi: 10.1002/jimd.12636. Epub 2023 Jun 6. J Inherit Metab Dis. 2023. PMID: 37243446 Review.
Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl-CoA mutase (MMUT) enzyme or the synthesis and transport of its cofactor, 5'-deoxy-adenosylcobalamin. ...Liver transplantation can improve pati …
Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl-Co …
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.
Chakrapani A, Stojanovic J, Vara R, De Nictolis F, Spada M, Dionisi-Vici C. Chakrapani A, et al. J Inherit Metab Dis. 2023 May;46(3):466-481. doi: 10.1002/jimd.12613. Epub 2023 Apr 24. J Inherit Metab Dis. 2023. PMID: 37067856 Review.
Propionic (PA) and methylmalonic aciduria (MMA) share many clinical similarities, which include the risk of acute metabolic encephalopathies, and some long-term complications, such as optic neuropathy, pancreatic involvement, developmental disability, and similar managemen …
Propionic (PA) and methylmalonic aciduria (MMA) share many clinical similarities, which include the risk of acute metabolic encephalo …
Prevalence of methylmalonic acidemia among newborns and the clinical-suspected population: a meta-analyse.
Jin L, Han X, He F, Zhang C. Jin L, et al. J Matern Fetal Neonatal Med. 2022 Dec;35(25):8952-8967. doi: 10.1080/14767058.2021.2008351. Epub 2021 Nov 30. J Matern Fetal Neonatal Med. 2022. PMID: 34847798
IMPORTANCE: Knowing the scale of rare inborn errors is important for screening and resource allocation. Evidence on the prevalence of methylmalonic acidemia (MMA) among newborns and the clinical-suspected population from large-scale screening programs needs t …
IMPORTANCE: Knowing the scale of rare inborn errors is important for screening and resource allocation. Evidence on the prevalence of met …
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
Pillai NR, Stroup BM, Poliner A, Rossetti L, Rawls B, Shayota BJ, Soler-Alfonso C, Tunuguntala HP, Goss J, Craigen W, Scaglia F, Sutton VR, Himes RW, Burrage LC. Pillai NR, et al. Mol Genet Metab. 2019 Dec;128(4):431-443. doi: 10.1016/j.ymgme.2019.11.001. Epub 2019 Nov 7. Mol Genet Metab. 2019. PMID: 31757659 Free PMC article. Review.
BACKGROUND: Organic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinically within the first few hours to days of life. ...Published reports on the outcome of LT show heterogeneous results regarding clinical and …
BACKGROUND: Organic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinically wi …
Methylmalonic acidemia.
Cohen JJ. Cohen JJ. Kidney Int. 1979 Mar;15(3):311-20. doi: 10.1038/ki.1979.40. Kidney Int. 1979. PMID: 41966 Free article. No abstract available.
145 results