PubMed for id: 18801

Year	Number of Results
1974	2
1976	4
1977	1
1978	1
1979	5
1980	5
1981	9
1982	6
1983	7
1984	10
1985	12
1986	9
1987	7
1988	5
1989	3
1990	4
1991	4
1992	10
1993	3
1994	4
1995	7
1996	8
1997	4
1998	7
1999	6
2000	9
2001	11
2002	14
2003	8
2004	9
2005	16
2006	9
2007	9
2008	10
2009	11
2010	7
2011	7
2012	18
2013	22
2014	10
2015	16
2016	16
2017	14
2018	16
2019	15
2020	13
2021	11
2022	19
2023	19
2024	8

1

In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.

Maryami F, Rismani E, Davoudi-Dehaghani E, Khalesi N, Talebi S, Mahdian R, Zeinali S. Maryami F, et al. Iran Biomed J. 2023 Sep 1;27(5):307-19. doi: 10.61186/ibj.27.5.307. Epub 2023 Jun 19. Iran Biomed J. 2023. PMID: 37873728 Free PMC article.

2

Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B.

Xue M. Xue M. Front Endocrinol (Lausanne). 2023 Jul 7;14:1199590. doi: 10.3389/fendo.2023.1199590. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37484962 Free PMC article.

3

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.

Lasio MLD, Leshinski AC, Ducich NH, Flore LA, Lehman A, Shur N, Jayakar PB, Hainline BE, Basinger AA, Wilson WG, Diaz GA, Erbe RW, Koeberl DD, Vockley J, Bedoyan JK. Lasio MLD, et al. Mol Genet Metab. 2023 Jun;139(2):107605. doi: 10.1016/j.ymgme.2023.107605. Epub 2023 May 9. Mol Genet Metab. 2023. PMID: 37207470

4

Generation of an induced pluripotent stem cell line (SHCDNi007-A) from a patient with pyruvate carboxylase deficiency carrying compound heterozygous (c.182 T > C/ c.2581G > A) variants in PC.

Sun J, Lu P, Shen Y, Ma L. Sun J, et al. Stem Cell Res. 2023 Feb;66:102997. doi: 10.1016/j.scr.2022.102997. Epub 2022 Dec 7. Stem Cell Res. 2023. PMID: 36508859 Free article.

5

[Analysis of child with pyruvate carboxylase deficiency type A due to compound heterozygous variants of the PC gene].

Zhao X, Ding J, Jin D. Zhao X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Sep 10;39(9):996-1000. doi: 10.3760/cma.j.cn511374-20210719-00606. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 36082573 Chinese.

6

Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.

Tsygankova P, Bychkov I, Minzhenkova M, Pechatnikova N, Bessonova L, Buyanova G, Naumchik I, Beskorovainiy N, Tabakov V, Itkis Y, Shilova N, Zakharova E. Tsygankova P, et al. Mol Genet Metab Rep. 2022 Jun 23;32:100889. doi: 10.1016/j.ymgmr.2022.100889. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35782291 Free PMC article.

7

A Series of 14 Polish Patients with Thrombotic Events and PC Deficiency-Novel c.401-1G>A PROC Gene Splice Site Mutation in a Patient with Aneurysms.

Weronska A, Potaczek DP, Oto J, Medina P, Undas A, Wypasek E. Weronska A, et al. Genes (Basel). 2022 Apr 22;13(5):733. doi: 10.3390/genes13050733. Genes (Basel). 2022. PMID: 35627118 Free PMC article.

8

PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report.

Tao D, Zhang H, Yang J, Niu H, Zhang J, Zeng M, Cheng S. Tao D, et al. Front Pediatr. 2022 Apr 28;10:825515. doi: 10.3389/fped.2022.825515. eCollection 2022. Front Pediatr. 2022. PMID: 35573952 Free PMC article.

9

PC Deficiency Testing: Thrombin-Thrombomodulin as PC Activator and Aptamer-Based Enzyme Capturing Increase Diagnostic Accuracy.

Reda S, Rühl H, Witkowski J, Müller J, Pavlova A, Oldenburg J, Pötzsch B. Reda S, et al. Front Cardiovasc Med. 2021 Oct 11;8:755281. doi: 10.3389/fcvm.2021.755281. eCollection 2021. Front Cardiovasc Med. 2021. PMID: 34708097 Free PMC article.

10

Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c.1828G > A mutations.

Mhanni AA, Rockman-Greenberg C, Ryner L, Bunge M. Mhanni AA, et al. JIMD Rep. 2021 Jun 14;61(1):42-47. doi: 10.1002/jmd2.12235. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485016 Free PMC article.

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