Pain in acute hepatic porphyrias: Updates on pathophysiology and management

por Kazamel, Mohamed, Pischik, Elena, Desnick, Robert J.
Publicado 2022

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants

por Tchaikovskii, Vassili, Desnick, Robert J., Bishop, David F.
Publicado 2019

Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

por Shabbeer, Junaid, Yasuda, Makiko, Benson, Stacy D, Desnick, Robert J
Publicado 2006

Multi-ethnic Cytochrome-P450 Copy Number Profiling: Novel Pharmacogenetic Alleles and Mechanism of Copy Number Variation Formation

por Martis, Suparna, Mei, Hui, Vijzelaar, Raymon, Edelmann, Lisa, Desnick, Robert J., Scott, Stuart A.
Publicado 2012

Phased Haplotype Resolution of the SLC6A4 Promoter Using Long-Read Single Molecule Real-Time (SMRT) Sequencing

por Botton, Mariana R., Yang, Yao, Scott, Erick R., Desnick, Robert J., Scott, Stuart A.
Publicado 2020

Multi-ethnic Distribution of Clinically Relevant CYP2C Genotypes and Haplotypes

por Martis, Suparna, Peter, Inga, Hulot, Jean-Sébastien, Kornreich, Ruth, Desnick, Robert J., Scott, Stuart A.
Publicado 2012

Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells †

por Crespo, Noe E., Torres-Bracero, Alexandra, Renta, Jessicca Y., Desnick, Robert J., Cadilla, Carmen L.
Publicado 2021

Parkinson's disease prevalence in Fabry disease: A survey study

por Wise, Adina H., Yang, Amy, Naik, Hetanshi, Stauffer, Chanan, Zeid, Natasha, Liong, Christopher, Balwani, Manisha, Desnick, Robert J., Alcalay, Roy N.
Publicado 2017

A novel approach to conducting clinical trials in the community setting: utilizing patient-driven platforms and social media to drive web-based patient recruitment

por Applequist, Janelle, Burroughs, Cristina, Ramirez, Artemio, Merkel, Peter A., Rothenberg, Marc E., Trapnell, Bruce, Desnick, Robert J., Sahin, Mustafa, Krischer, Jeffrey P.
Publicado 2020

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

por Schiffmann, Raphael, Warnock, David G., Banikazemi, Maryam, Bultas, Jan, Linthorst, Gabor E., Packman, Seymour, Sorensen, Sven Asger, Wilcox, William R., Desnick, Robert J.
Publicado 2009

Quantitative and multiplexed DNA methylation analysis using long-read single-molecule real-time bisulfite sequencing (SMRT-BS)

por Yang, Yao, Sebra, Robert, Pullman, Benjamin S, Qiao, Wanqiong, Peter, Inga, Desnick, Robert J, Geyer, C Ronald, DeCoteau, John F, Scott, Stuart A
Publicado 2015

A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria

por Balwani, Manisha, Naik, Hetanshi, Overbey, Jessica R., Bonkovsky, Herbert L., Bissell, D. Montgomery, Wang, Bruce, Phillips, John D., Desnick, Robert J., Anderson, Karl E.
Publicado 2022

Design and validation of an open-source modular Microplate Photoirradiation System for high-throughput photobiology experiments

por Katz, Suzanna, Backeris, Peter, Merck, Christopher, Suprun, Maria, D’Souza, Sunita, Bishop, David F., Desnick, Robert J., Moore, Kateri, Ubarretxena-Belandia, Iban, Lemischka, Ihor R.
Publicado 2018

ZFN-mediated in vivo gene editing in hepatocytes leads to supraphysiologic α-Gal A activity and effective substrate reduction in Fabry mice

por Pagant, Silvere, Huston, Marshall W., Moreira, Luciana, Gan, Lin, St Martin, Susan, Sproul, Scott, Holmes, Michael C., Meyer, Kathleen, Wechsler, Thomas, Desnick, Robert J., Yasuda, Makiko
Publicado 2021

ABCB6 polymorphisms are not overly represented in patients with porphyria

por Farrell, Colin P., Nicolas, Gäel, Desnick, Robert J., Parker, Charles J., Lamoril, Jerome, Gouya, Laurent, Karim, Zoubida, Tchernitchko, Dimitri, Chan, Brenden, Puy, Herve, Phillips, John D.
Publicado 2022

Agalsidase beta treatment slows estimated glomerular filtration rate loss in classic Fabry disease patients: results from an individual patient data meta-analysis

por Ortiz, Alberto, Kanters, Steve, Hamed, Alaa, DasMahapatra, Pronabesh, Poggio, Eugene, Maski, Manish, Aguiar, Mario, Ponce, Elvira, Jansen, Jeroen P, Ayers, Dieter, Goldgrub, Rachel, Desnick, Robert J
Publicado 2020

Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria

por Naik, Hetanshi, Overbey, Jessica R., Desnick, Robert J., Anderson, Karl E., Bissell, D. Montgomery, Bloomer, Joseph, Bonkovsky, Herbert L., Phillips, John D., Wang, Bruce, Singal, Ashwani, Balwani, Manisha
Publicado 2019

Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria

por Berger, Stefanie, Stattmann, Miranda, Cicvaric, Ana, Monje, Francisco J., Coiro, Pierluca, Hotka, Matej, Ricken, Gerda, Hainfellner, Johannes, Greber-Platzer, Susanne, Yasuda, Makiko, Desnick, Robert J., Pollak, Daniela D.
Publicado 2020

The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda

por Farrell, Colin P., Overbey, Jessica R., Naik, Hetanshi, Nance, Danielle, McLaren, Gordon D., McLaren, Christine E., Zhou, Luming, Desnick, Robert J., Parker, Charles J., Phillips, John D.
Publicado 2016

Evaluation of 22 genetic variants with Crohn's Disease risk in the Ashkenazi Jewish population: a case-control study

por Peter, Inga, Mitchell, Adele A, Ozelius, Laurie, Erazo, Monica, Hu, Jianzhong, Doheny, Dana, Abreu, Maria T, Present, Daniel H, Ullman, Thomas, Benkov, Keith, Korelitz, Burton I, Mayer, Lloyd, Desnick, Robert J
Publicado 2011