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Select item 111760711.

Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology

Oleg A. Shchelochkov, Cristan A. Farmer, Colby Chlebowski, Dee Adedipe, Susan Ferry, Irini Manoli, Alexandra Pass, Samantha McCoy, Carol Van Ryzin, Jennifer Sloan, Audrey Thurm, Charles P. Venditti

Mol Psychiatry. 2024; 29(4): 974–981. Published online 2024 Jan 11. doi: 10.1038/s41380-023-02385-5

PMCID:: PMC11176071

Abstract Article PDF–1.0M

Select item 111546942.

Survival of propionic acidemia patients with liver transplant

Tamás Zelei, Zoltán Vokó, Bertalan Németh, Zsuzsanna Petykó, Geetanjoli Banerjee, Vanja Sikirica

Mol Genet Metab Rep. 2024 Sep; 40: 101093. Published online 2024 May 27. doi: 10.1016/j.ymgmr.2024.101093

PMCID:: PMC11154694

Abstract Article PDF–577K

Select item 107769963.

Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia

Ulrika Simone Spangsberg Petersen, Maja Dembic, Ainhoa Martínez-Pizarro, Eva Richard, Lise Lolle Holm, Jesper Foged Havelund, Thomas Koed Doktor, Martin Røssel Larsen, Nils J. Færgeman, Lourdes Ruiz Desviat, Brage Storstein Andresen

Mol Ther Nucleic Acids. 2024 Mar 12; 35(1): 102101. Published online 2023 Dec 13. doi: 10.1016/j.omtn.2023.102101

PMCID:: PMC10776996

Abstract Article PDF–3.9M

Select item 105120144.

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

Abstract Article PDF–3.9M

Select item 104930205.

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

Abstract Article PDF–1.8M

Select item 101438786.

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

Abstract Article PDF–684K

Select item 100667657.

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

Abstract Article PDF–1.1M

Select item 99164178.

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

Abstract Article PDF–5.9M

Select item 98569189.

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

Abstract Article PDF–2.8M

Select item 984269510.

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

Abstract Article PDF–451K

Select item 981715611.

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

Abstract Article PDF–671K

Select item 964722812.

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

Abstract Article PDF–1.7M

Select item 946095913.

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

Abstract Article PDF–654K

Select item 916719314.

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

Abstract Article PDF–929K

Select item 899322215.

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

Abstract Article PDF–1021K

Select item 896864116.

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

Abstract Article PDF–1.0M

Select item 894413017.

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