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Characterization of spastic paraplegia in a family with a novel PSEN1 mutation Ringman, John M.; Dorrani, Naghmeh; Fernandez, Sara Gutierrez; Signer, Rebecca; Martinez-Agosto, Julian; Lee, Hane; Douine, Emilie D.; Qiao, Yuchuan; Shi, Yonggang; D'Orazio, Lina; Pawar, Sanjay; Robbie, Leah; Kashani, Amir H.; Singer, Maxwell; Byers, Joshua T.; Magaki, Shino; Guzman, Sam; Sagare, Abhay; Zlokovic, Berislav; Cederbaum, Stephen; Nelson, Stanley; Sheikh-Bahaei, Nasim; Chui, Helena C.; Chavez-Gutierrez, Lucia; Vinters, Harry V. 分享 收藏
Intermittent lipid nanoparticle mRNA administration prevents cortical dysmyelination associated with arginase deficiency Khoja, Suhail; Liu, Xiao-Bo; Truong, Brian; Nitzahn, Matthew; Lambert, Jenna; Eliav, Adam; Nasser, Eram; Randolph, Emma; Burke, Kristine E.; White, Rebecca; Zhu, Xuling; Martini, Paolo G. V.; Nissim, Itzhak; Cederbaum, Stephen D.; Lipshutz, Gerald S. 分享 收藏
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Hepatic arginase deficiency fosters dysmyelination during postnatal CNS development Liu, Xiao-Bo; Haney, Jillian R.; Cantero, Gloria; Lambert, Jenna R.; Otero-Garcia, Marcos; Truong, Brian; Gropman, Andrea; Cobos, Inma; Cederbaum, Stephen D.; Lipshutz, Gerald S. 分享 收藏
Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria Burton, Barbara K.; Jones, Kyle Bradford; Cederbaum, Stephen; Rohr, Fran; Waisbren, Susan; Irwin, Debra E.; Kim, Gilwan; Lilienstein, Joshua; Alvarez, Ignacio; Jurecki, Elaina; Levy, Harvey 分享 收藏
Human hepatocyte transplantation corrects the inherited metabolic liver disorder arginase deficiency in mice Angarita, Stephanie A. K.; Truong, Brian; Khoja, Suhail; Nitzahn, Matthew; Rajbhandari, Abha K.; Zhuravka, Irina; Duarte, Sergio; Lin, Michael G.; Lam, Alex K.; Cederbaum, Stephen D.; Lipshutz, Gerald S. 分享 收藏
Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Mullegama, Sureni V.; Klein, Steven D.; Nguyen, Dzung C.; Kim, Arang; Signer, Rebecca; Fox, Michelle; Dorrani, Naghmeh; Hendershot, Andrea; Mardach, Rebecca; Suddath, Robert; Dipple, Katrina; Vilain, Eric; Wong, Derek A.; Deignan, Joshua L.; Cederbaum, Stephen D.; Grody, Wayne W.; Martinez-Agosto, Julian A. 分享 收藏
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Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells Lee, Patrick C.; Truong, Brian; Vega-Crespo, Agustin; Gilmore, W. Blake; Hermann, Kip; Angarita, Stephanie A. K.; Tang, Jonathan K.; Chang, Katherine M.; Wininger, Austin E.; Lam, Alex K.; Schoenberg, Benjamen E.; Cederbaum, Stephen D.; Pyle, April D.; Byrne, James A.; Lipshutz, Gerald S. 分享 收藏
Myocyte-mediated Arginase Expression Controls Hyperargininemia but not Hyperammonemia in Arginase-deficient Mice Hu, Chuhong; Kasten, Jennifer; Park, Hana; Bhargava, Ragini; Tail, Denise S.; Grody, Wayne W.; Nguyen, Quynh G.; Hauschka, Stephen D.; Cederbaum, Stephen D.; Lipshutz, Gerald S. 分享 收藏
Severe and rapid disease course in the natural history of infants with lysosomal acid lipase deficiency Jones, Simon A.; Bernstein, Donna; Bialer, Martin; Dhawan, Anil; Hendriksz, Chris; Whitley, Chester B.; Banikazemi, Maryam; Chang, Alicia; Guardamagna, Ornella; Raiman, Julian; Gamal, Iman; Selim, Laila; Cederbaum, Stephen; Di Rocco, Maja; Domm, Jennifer; Enns, Gregory; Finegold, David; Gargus, Jay; Zaki, Osama; Eckert, Stephen; Schneider, Eugene; Quinn, Anthony G.; Valayannopouloss, Vassili 分享 收藏
Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse Kasten, Jennifer; Hu, Chuhong; Bhargava, Ragini; Park, Hana; Tai, Denise; Byrne, James A.; Marescau, Bart; De Deyn, Peter P.; Schlichting, Lisa; Grody, Wayne W.; Cederbaum, Stephen D.; Lipshutz, Gerald S. 分享 收藏
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L-citrulline protects from kidney damage in type 1 diabetic mice Romero, Maritza J.; Yao, Lin; Sridhar, Supriya; Bhatta, Anil; Dou, Huijuan; Ramesh, Ganesan; Brands, Michael W.; Pollock, David M.; Caldwell, Ruth B.; Cederbaum, Stephen D.; Head, C. Alvin; Bagi, Zsolt; Lucas, Rudolf; Caldwell, Robert W. 分享 收藏
Arginase 1: an unexpected mediator of pulmonary capillary barrier dysfunction in models of acute lung injury Lucas, Rudolf; Czikora, Istvan; Sridhar, Supriya; Zemskov, Evgeny A.; Oseghale, Aluya; Circo, Sebastian; Cederbaum, Stephen D.; Chakraborty, Trinad; Fulton, David J.; Caldwell, Robert W.; Romero, Maritza J. 分享 收藏
Protein Kinase C-α and Arginase I Mediate Pneumolysin-Induced Pulmonary Endothelial Hyperpermeability Lucas, Rudolf; Yang, Guang; Gorshkov, Boris A.; Zemskov, Evgeny A.; Sridhar, Supriya; Umapathy, Nagavedi S.; Jezierska-Drutel, Agnieszka; Alieva, Irina B.; Leustik, Martin; Hossain, Hamid; Fischer, Bernhard; Catravas, John D.; Verin, Alexander D.; Pittet, Jean-Francois; Caldwell, Ruth B.; Mitchell, Timothy J.; Cederbaum, Stephen D.; Fulton, David J.; Matthay, Michael A.; Caldwell, Robert W.; Romero, Maritza J.; Chakraborty, Trinad 分享 收藏
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Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California Gallant, Natalie M.; Leydiker, Karen; Tang, Hao; Feuchtbaum, Lisa; Lorey, Fred; Puckett, Rebecca; Deignan, Joshua L.; Neidich, Julie; Dorrani, Naghmeh; Chang, Erica; Barshop, Bruce A.; Cederbaum, Stephen D.; Abdenur, Jose E.; Wang, Raymond Y. 分享 收藏
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