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Items: 1 to 20 of 1362

1.
Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia
Randy J. Chandler, Giovanni Di Pasquale, Eun-Young Choi, David Chang, Stephanie N. Smith, Jennifer L. Sloan, Victoria Hoffmann, Lina Li, John A. Chiorini, Charles P. Venditti
Mol Ther Methods Clin Dev. 2023 Sep 14; 30: 181–190. Published online 2023 Jun 25. doi: 10.1016/j.omtm.2023.06.008
PMCID:
PMC10512014
ArticlePubReaderPDF–3.9MCite
2.
Prevalence of propionic acidemia in China
Yixing Zhang, Chuwen Peng, Lifang Wang, Sitong Chen, Junwei Wang, Ziheng Tian, Chuangong Wang, Xiaoxin Chen, Suhong Zhu, Guo-Fang Zhang, You Wang
Orphanet J Rare Dis. 2023; 18: 281. Published online 2023 Sep 9. doi: 10.1186/s13023-023-02898-w
PMCID:
PMC10493020
ArticlePubReaderPDF–1.8MCite
3.
Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantation
Evelina Maines, Michele Moretti, Nicola Vitturi, Giorgia Gugelmo, Ilaria Fasan, Livia Lenzini, Giovanni Piccoli, Vincenza Gragnaniello, Arianna Maiorana, Massimo Soffiati, Alberto Burlina, Roberto Franceschi
Metabolites. 2023 Apr; 13(4): 563. Published online 2023 Apr 16. doi: 10.3390/metabo13040563
PMCID:
PMC10143878
ArticlePubReaderPDF–684KCite
4.
Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia
Chitra Subramanian, Matthew W. Frank, Rajendra Tangallapally, Mi‐Kyung Yun, Stephen W. White, Richard E. Lee, Charles O. Rock, Suzanne Jackowski
J Inherit Metab Dis. 2023 Jan; 46(1): 28–42. Published online 2022 Nov 3. doi: 10.1002/jimd.12570
PMCID:
PMC10092110
ArticlePubReaderPDF–5.1MCite
5.
Translational Pharmacokinetic/Pharmacodynamic Model for mRNA-3927, an Investigational Therapeutic for the Treatment of Propionic Acidemia
Husain Attarwala, Matthew Lumley, Min Liang, Vijay Ivaturi, Joe Senn
Nucleic Acid Ther. April 2023; 33(2): 141–147. Published online 2023 Mar 30. doi: 10.1089/nat.2022.0036
PMCID:
PMC10066765
ArticlePubReaderPDF–1.1MCite
6.
Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy
Mar Álvarez, Pedro Ruiz-Sala, Belén Pérez, Lourdes Ruiz Desviat, Eva Richard
Int J Mol Sci. 2023 Feb; 24(3): 2182. Published online 2023 Jan 22. doi: 10.3390/ijms24032182
PMCID:
PMC9916417
ArticlePubReaderPDF–5.9MCite
7.
Evaluation of Right Ventricular Function in Patients with Propionic Acidemia—A Cross-Sectional Study
Alexander Kovacevic, Sven F. Garbade, Friederike Hörster, Georg F. Hoffmann, Matthias Gorenflo, Derliz Mereles, Stefan Kölker, Christian Staufner
Children (Basel) 2023 Jan; 10(1): 113. Published online 2023 Jan 5. doi: 10.3390/children10010113
PMCID:
PMC9856918
ArticlePubReaderPDF–2.8MCite
8.
Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study
Kimberly A. Chapman, Devon MacEachern, Gerald F. Cox, Mavis Waller, Jeanine Fogarty, Suzanne Granger, Miganush Stepanians, Susan Waisbren
Mol Genet Metab Rep. 2023 Mar; 34: 100953. Published online 2023 Jan 8. doi: 10.1016/j.ymgmr.2022.100953
PMCID:
PMC9842695
ArticlePubReaderPDF–451KCite
9.
Case report: A unusual case of delayed propionic acidemia complicated with subdural hematoma
Zongzhi Jiang, Yuxin Fu, Xiaojing Wei, Ziyi Wang, Xuefan Yu
Front Neurol. 2022; 13: 1010636. Published online 2022 Dec 22. doi: 10.3389/fneur.2022.1010636
PMCID:
PMC9817156
ArticlePubReaderPDF–671KCite
10.
Natural history of propionic acidemia in the Amish population
Sarah Ehrenberg, Catherine Walsh Vockley, Paige Heiman, Zineb Ammous, Olivia Wenger, Jerry Vockley, Lina Ghaloul-Gonzalez
Mol Genet Metab Rep. 2022 Dec; 33: 100936. Published online 2022 Nov 5. doi: 10.1016/j.ymgmr.2022.100936
PMCID:
PMC9647228
ArticlePubReaderPDF–1.7MCite
11.
Ventricular Arrhythmias in a Patient With Propionic Acidemia
Anthony A Della Rossa, Priyadarshini M Dixit, Ruchit Shah, Stephanie Hang, Jacky Duong
Cureus. 2022 Sep; 14(9): e28966. Published online 2022 Sep 9. doi: 10.7759/cureus.28966
PMCID:
PMC9460959
ArticlePubReaderPDF–654KCite
12.
Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology
Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernandez-Felix, Pedro Ruiz-Sala, Mercedes del Valle, Fernando Garcia, Francisco Arrieta, Mercedes Martinez-Pardo
Amino Acids. 2022; 54(5): 777–786. Published online 2022 Jan 30. doi: 10.1007/s00726-022-03128-6
PMCID:
PMC9167193
ArticlePubReaderPDF–929KCite
13.
Immunological Memory and Affinity Maturation After Vaccination in Patients With Propionic Acidemia
Manuela Zlamy, Thomas Zöggeler, Magdalena Bachmann, Michael Schirmer, Christian Lechner, Miriam Michel, Alexander Schimkowitsch, Daniela Karall, Sabine Scholl-Bürgi
Front Immunol. 2022; 13: 774503. Published online 2022 Mar 25. doi: 10.3389/fimmu.2022.774503
PMCID:
PMC8993222
ArticlePubReaderPDF–1021KCite
14.
Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia
Guang Ji, Yaling Liu, Xueqin Song, Zhenfei Li
Front Genet. 2022; 13: 807822. Published online 2022 Mar 17. doi: 10.3389/fgene.2022.807822
PMCID:
PMC8968641
ArticlePubReaderPDF–1.0MCite
15.
Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital
Yi Liu, Zhehui Chen, Hui Dong, Yuan Ding, Ruxuan He, Lulu Kang, Dongxiao Li, Ming Shen, Ying Jin, Yao Zhang, Jinqing Song, Yaping Tian, Yongtong Cao, Desheng Liang, Yanling Yang
Orphanet J Rare Dis. 2022; 17: 135. Published online 2022 Mar 24. doi: 10.1186/s13023-022-02271-3
PMCID:
PMC8944130
ArticlePubReaderPDF–1.9MCite
16.
Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review
Yingxuan Li, Miaomiao Wang, Zhaoyang Huang, Jing Ye, Yuping Wang
BMC Med Genomics. 2022; 15: 59. Published online 2022 Mar 16. doi: 10.1186/s12920-022-01202-2
PMCID:
PMC8925091
ArticlePubReaderPDF–1.5MCite
17.
Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations
Patrice K. Held, Emily Singh, Jessica Scott Schwoerer
Int J Neonatal Screen. 2022 Mar; 8(1): 13. Published online 2022 Feb 7. doi: 10.3390/ijns8010013
PMCID:
PMC8883915
ArticlePubReaderPDF–1.5MCite
18.
Therapeutic potential of living donor liver transplantation from heterozygous carrier donors in children with propionic acidemia
Zhi-Gui Zeng, Guang-Peng Zhou, Lin Wei, Wei Qu, Ying Liu, Yu-Le Tan, Jun Wang, Li-Ying Sun, Zhi-Jun Zhu
Orphanet J Rare Dis. 2022; 17: 62. Published online 2022 Feb 21. doi: 10.1186/s13023-022-02233-9
PMCID:
PMC8862340
ArticlePubReaderPDF–2.0MCite
19.
Pantothenate kinase activation relieves coenzyme A sequestration and improves mitochondrial function in a propionic acidemia mouse model
Chitra Subramanian, Matthew W. Frank, Rajendra Tangallapally, Mi-Kyung Yun, Anne Edwards, Stephen W. White, Richard E. Lee, Charles O. Rock, Suzanne Jackowski
Sci Transl Med. Author manuscript; available in PMC 2022 Feb 10.
Published in final edited form as: Sci Transl Med. 2021 Sep 15; 13(611): eabf5965. Published online 2021 Sep 15. doi: 10.1126/scitranslmed.abf5965
PMCID:
PMC8830021
ArticlePubReaderPDF–2.5MCite
20.
Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation
Andrea Bordugo, Elisa Salvetti, Giulia Rodella, Michele Piazza, Alice Dianin, Angela Amoruso, Giorgio Piacentini, Marco Pane, Sandra Torriani, Nicola Vitulo, Giovanna E. Felis
Microorganisms. 2021 Dec; 9(12): 2599. Published online 2021 Dec 16. doi: 10.3390/microorganisms9122599
PMCID:
PMC8703847
ArticlePubReaderPDF–1.9MCite

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