BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

207 related articles for article (PubMed ID: 19025475)

  • 21. 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]  

  • 22. 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]  

  • 23. [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]  

  • 24. The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
    Pérez B; Angaroni C; Sánchez-Alcudia R; Merinero B; Pérez-Cerdá C; Specola N; Rodríguez-Pombo P; Wajner M; de Kremer RD; Cornejo V; Desviat LR; Ugarte M
    J Inherit Metab Dis; 2010 Oct; 33(Suppl 2):S307-14. PubMed ID: 20549364
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review.
    Li Y; Wang M; Huang Z; Ye J; Wang Y
    BMC Med Genomics; 2022 Mar; 15(1):59. PubMed ID: 35296328
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.
    Riemersma M; Hazebroek MR; Helderman-van den Enden ATJM; Salomons GS; Ferdinandusse S; Brouwers MCGJ; van der Ploeg L; Heymans S; Glatz JFC; van den Wijngaard A; Krapels IPC; Bierau J; Brunner HG
    Eur J Hum Genet; 2017 Nov; 25(11):1195-1201. PubMed ID: 28853722
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.
    Chapman KA; Collado MS; Figler RA; Hoang SA; Armstrong AJ; Cui W; Purdy M; Simmers MB; Yazigi NA; Summar ML; Wamhoff BR; Dash A
    Mol Genet Metab; 2016 Mar; 117(3):355-362. PubMed ID: 26740382
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
    Kör D; Şeker-Yılmaz B; Bulut FD; Kılavuz S; Öktem M; Ceylaner S; Yıldızdaş D; Önenli-Mungan N
    Turk J Pediatr; 2019; 61(3):330-336. PubMed ID: 31916709
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Translational Pharmacokinetic/Pharmacodynamic Model for mRNA-3927, an Investigational Therapeutic for the Treatment of Propionic Acidemia.
    Attarwala H; Lumley M; Liang M; Ivaturi V; Senn J
    Nucleic Acid Ther; 2023 Apr; 33(2):141-147. PubMed ID: 36577040
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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
    Mol Genet Metab; 2022 Jan; 135(1):47-55. PubMed ID: 34896004
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.
    Rincón A; Aguado C; Desviat LR; Sánchez-Alcudia R; Ugarte M; Pérez B
    Am J Hum Genet; 2007 Dec; 81(6):1262-70. PubMed ID: 17966092
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Establishment of a non-integrated iPSC line (SDQLCHi043-A) from a male infant with propionic acidemia carrying compound heterozygote mutations in PCCB gene.
    Li Z; Liu C; Xin H; Lv Y; Gao M; Ma J; Liu N; Gai Z; Liu Y
    Stem Cell Res; 2024 Apr; 76():103352. PubMed ID: 38394970
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Novel variants of the PCCB gene in Chinese patients with propionic acidemia.
    Yang X; Li D; Tu C; He W; Meng L; Tan YQ; Lu G; Du J; Zhang Q
    Clin Chim Acta; 2021 Aug; 519():18-25. PubMed ID: 33798502
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.
    Kurolap A; Barel D; Shaul Lotan N; Wexler I; Chai Gadot C; Mory A; Barel O; Almashanu S; Baris Feldman H
    Mol Genet Metab; 2023 Nov; 140(3):107702. PubMed ID: 37776842
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia.
    Chandler RJ; Di Pasquale G; Choi EY; Chang D; Smith SN; Sloan JL; Hoffmann V; Li L; Chiorini JA; Venditti CP
    Mol Ther Methods Clin Dev; 2023 Sep; 30():181-190. PubMed ID: 37746248
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 11.