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

Year Number of Results
1976 1
1978 1
1979 1
1980 4
1982 1
1983 1
1984 3
1986 1
1989 2
1990 3
1992 2
1994 4
1995 2
1996 1
1998 1
1999 2
2000 2
2001 1
2002 2
2003 4
2004 3
2005 1
2006 2
2007 3
2008 4
2009 8
2010 7
2011 11
2012 11
2013 6
2014 2
2015 9
2016 6
2017 6
2018 9
2019 7
2020 21
2021 15
2022 11
2023 16
2024 4

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179 results

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Page 1
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Van Calcar SC, Sowa M, Rohr F, Beazer J, Setlock T, Weihe TU, Pendyal S, Wallace LS, Hansen JG, Stembridge A, Splett P, Singh RH. Van Calcar SC, et al. Mol Genet Metab. 2020 Sep-Oct;131(1-2):23-37. doi: 10.1016/j.ymgme.2020.10.001. Epub 2020 Oct 6. Mol Genet Metab. 2020. PMID: 33093005 Free article. Review.
The nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD) is the fourth in a series of web-based guidelines focusing on the diet treatment for inherited metabolic disorders and follows previous publication of guidelines for maple syrup urine …
The nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD) is the fourth in a series of web-based guid …
Prevalence of propionic acidemia in China.
Zhang Y, Peng C, Wang L, Chen S, Wang J, Tian Z, Wang C, Chen X, Zhu S, Zhang GF, Wang Y. Zhang Y, et al. Orphanet J Rare Dis. 2023 Sep 9;18(1):281. doi: 10.1186/s13023-023-02898-w. Orphanet J Rare Dis. 2023. PMID: 37689673 Free PMC article. Review.
Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. ...
Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. ...
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. ...
BACKGROUND: Organic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinically wi …
Propionic acidemia in mice: Liver acyl-CoA levels and clinical course.
Zhao C, Wang Y, Yang H, Wang S, Tang MC, Cyr D, Parente F, Allard P, Waters P, Furtos A, Yang G, Mitchell GA. Zhao C, et al. Mol Genet Metab. 2022 Jan;135(1):47-55. doi: 10.1016/j.ymgme.2021.11.011. Epub 2021 Nov 27. Mol Genet Metab. 2022. PMID: 34896004
Propionic acidemia (PA) is a severe autosomal recessive metabolic disease caused by deficiency of propionyl-CoA carboxylase (PCC). ...
Propionic acidemia (PA) is a severe autosomal recessive metabolic disease caused by deficiency of propionyl-CoA carboxylase (P
Propionic acidemia in the Arab World.
Zayed H. Zayed H. Gene. 2015 Jun 15;564(2):119-24. doi: 10.1016/j.gene.2015.04.019. Epub 2015 Apr 9. Gene. 2015. PMID: 25865301 Review.
The autosomal recessive disease propionic acidemia (PA) is an inborn error of metabolism with highly variable clinical manifestations, caused by a deficiency of propionyl-CoA carboxylase (PCC) enzyme, due to mutations in either PCCA or PCCB genes, which encode the a …
The autosomal recessive disease propionic acidemia (PA) is an inborn error of metabolism with highly variable clinical manifes …
Acute management of propionic acidemia.
Chapman KA, Gropman A, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Pena L, Smith B, Sutton VR, Urv T, Venditti C, Chakrapani A. Chapman KA, et al. Mol Genet Metab. 2012 Jan;105(1):16-25. doi: 10.1016/j.ymgme.2011.09.026. Epub 2011 Sep 24. Mol Genet Metab. 2012. PMID: 22000903 Free PMC article. Review.
Propionic acidemia or aciduria is an intoxication-type disorder of organic metabolism. ...On January 28-30, 2011 in Washington, D.C., Children's National Medical Center hosted a group of clinicians, scientists and parental group representatives to design recommendat
Propionic acidemia or aciduria is an intoxication-type disorder of organic metabolism. ...On January 28-30, 2011 in Washington
Natural history of propionic acidemia.
Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, Island E, MacLeod E, Matern D, Smith B, Stagni K, Sutton VR, Ueda K, Urv T, Venditti C, Enns GM, Summar ML. Pena L, et al. Mol Genet Metab. 2012 Jan;105(1):5-9. doi: 10.1016/j.ymgme.2011.09.022. Epub 2011 Sep 22. Mol Genet Metab. 2012. PMID: 21986446 Review.
Propionic acidemia is an organic acidemia that can lead to metabolic acidosis, coma and death, if not treated appropriately in the acute setting. ...This article reviews the available literature for the natural history of propionic acidemia....
Propionic acidemia is an organic acidemia that can lead to metabolic acidosis, coma and death, if not treated appropriately in
Post-transplantation Outcomes in Patients with PA or MMA: A Review of the Literature.
Yap S, Vara R, Morais A. Yap S, et al. Adv Ther. 2020 May;37(5):1866-1896. doi: 10.1007/s12325-020-01305-1. Epub 2020 Apr 8. Adv Ther. 2020. PMID: 32270363 Free PMC article. Review.
INTRODUCTION: Liver transplantation is recognised as a treatment option for patients with propionic acidemia (PA) and those with methylmalonic acidemia (MMA) without renal impairment. ...
INTRODUCTION: Liver transplantation is recognised as a treatment option for patients with propionic acidemia (PA) and those wi …
179 results