219 related articles for article (PubMed ID: 31063319)
1. [Clinical, biochemical and molecular findings of propionic acidemia].
Cammarata-Scalisi F; Yen-Hui C; Tze-Tze L; Da Silva G; Araque D; Callea M; Avendaño A
Arch Argent Pediatr; 2019 Jun; 117(3):e288-e291. PubMed ID: 31063319
[TBL] [Abstract][Full Text] [Related]
2. Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.
Yang Q; Xu H; Luo J; Li M; Yi S; Zhang Q; Geng G; Feng S; Fan X
BMC Med Genet; 2020 Apr; 21(1):72. PubMed ID: 32252659
[TBL] [Abstract][Full Text] [Related]
3. Propionyl-CoA carboxylase - A review.
Wongkittichote P; Ah Mew N; Chapman KA
Mol Genet Metab; 2017 Dec; 122(4):145-152. PubMed ID: 29033250
[TBL] [Abstract][Full Text] [Related]
4. Propionic acidemia in the Arab World.
Zayed H
Gene; 2015 Jun; 564(2):119-24. PubMed ID: 25865301
[TBL] [Abstract][Full Text] [Related]
5. Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation.
Tian Y; Wang G; Shi W; Bai X
BMC Pregnancy Childbirth; 2020 Nov; 20(1):689. PubMed ID: 33183246
[TBL] [Abstract][Full Text] [Related]
6. Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.
Chapman KA; Ostrovsky J; Rao M; Dingley SD; Polyak E; Yudkoff M; Xiao R; Bennett MJ; Falk MJ
J Inherit Metab Dis; 2018 Mar; 41(2):157-168. PubMed ID: 29159707
[TBL] [Abstract][Full Text] [Related]
7. A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.
Wang HR; Liu YQ; He XL; Sun J; Zeng FW; Yan CB; Li H; Gao SY; Yang Y
BMC Med Genet; 2020 Aug; 21(1):166. PubMed ID: 32819290
[TBL] [Abstract][Full Text] [Related]
8. Novel Heterozygous PCCA Mutations with Fatal Outcome in Propionic Acidemia.
Yang B; Tang W
Indian Pediatr; 2018 Jun; 55(6):529-530. PubMed ID: 29978829
[No Abstract] [Full Text] [Related]
9. [Gene mutation analysis in patients with propionic acidemia].
Hu YH; Han LS; Ye J; Qiu WJ; Zhang YF; Yang YL; Liu L; Ma HW; Gao XL; Gu XF
Zhonghua Er Ke Za Zhi; 2008 Jun; 46(6):416-20. PubMed ID: 19099776
[TBL] [Abstract][Full Text] [Related]
10. Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.
Wang H; Meng L; Li W; Du J; Tan Y; Gong F; Lu G; Lin G; Zhang Q
Clin Chim Acta; 2020 Mar; 502():153-158. PubMed ID: 31893529
[TBL] [Abstract][Full Text] [Related]
11. Metabolic perturbations mediated by propionyl-CoA accumulation in organs of mouse model of propionic acidemia.
He W; Wang Y; Xie EJ; Barry MA; Zhang GF
Mol Genet Metab; 2021 Nov; 134(3):257-266. PubMed ID: 34635437
[TBL] [Abstract][Full Text] [Related]
12. [Phenotypes and genotypes of 78 patients with propionic acidemia].
Ma X; Liu Y; Chen ZH; Zhang Y; Dong H; Song JQ; Jin Y; Li MQ; Kang LL; He RX; Ding Y; Li DX; Zheng H; Sun LY; Zhu ZJ; Yang YL; Cao Y
Zhonghua Yu Fang Yi Xue Za Zhi; 2022 Sep; 56(9):1263-1271. PubMed ID: 36207890
[No Abstract] [Full Text] [Related]
13. Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.
Chiu YH; Liu YN; Liao WL; Chang YC; Lin SP; Hsu CC; Chiu PC; Niu DM; Wang CH; Ke YY; Chien YH; Hsiao KJ; Liu TT
Biochem Genet; 2014 Oct; 52(9-10):415-29. PubMed ID: 24863100
[TBL] [Abstract][Full Text] [Related]
14. Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.
Gupta D; Bijarnia-Mahay S; Kohli S; Saxena R; Puri RD; Shigematsu Y; Yamaguchi S; Sakamoto O; Gupta N; Kabra M; Thakur S; Deb R; Verma IC
Genet Test Mol Biomarkers; 2016 Jul; 20(7):373-82. PubMed ID: 27227689
[TBL] [Abstract][Full Text] [Related]
15. Neuropathological report of propionic acidemia.
Cao LX; Hu WZ; Dong W; Yang Q; Yin JH; Wang Y; Ni X; Huang Y
Neuropathology; 2023 Apr; 43(2):143-150. PubMed ID: 36102083
[TBL] [Abstract][Full Text] [Related]
16. Clinical characteristics and mutation analysis of propionic acidemia in Thailand.
Vatanavicharn N; Liammongkolkul S; Sakamoto O; Kamolsilp M; Sathienkijkanchai A; Wasant P
World J Pediatr; 2014 Feb; 10(1):64-8. PubMed ID: 24464666
[TBL] [Abstract][Full Text] [Related]
17. Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia.
Maryami F; Davoudi-Dehaghani E; Khalesi N; Rismani E; Rahimi H; Talebi S; Zeinali S
Mol Genet Genomics; 2023 Jul; 298(4):905-917. PubMed ID: 37131081
[TBL] [Abstract][Full Text] [Related]
18. [Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].
Chen Z; Wen P; Wang G; Hu Y; Liu X; Chen L; Chen S; Wan L; Cui D; Shang Y; Li C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb; 32(1):26-30. PubMed ID: 25636094
[TBL] [Abstract][Full Text] [Related]
19. Pathophysiological mechanisms of complications associated with propionic acidemia.
Marchuk H; Wang Y; Ladd ZA; Chen X; Zhang GF
Pharmacol Ther; 2023 Sep; 249():108501. PubMed ID: 37482098
[TBL] [Abstract][Full Text] [Related]
20. Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.
Rivera-Barahona A; Navarrete R; García-Rodríguez R; Richard E; Ugarte M; Pérez-Cerda C; Pérez B; Gámez A; Desviat LR
Mol Genet Metab; 2018 Nov; 125(3):266-275. PubMed ID: 30274917
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
