A Quantitative Assessment of the Burden and Distribution of Lisch Nodules in Adults with Neurofibromatosis Type 1

Por Boley, Sean, Sloan, Jennifer L., Pemov, Alexander, Stewart, Douglas R.
Publicado em 2009

Renal Growth in Isolated Methylmalonic Acidemia (MMA)

Por Kruszka, Paul S., Manoli, Irini, Sloan, Jennifer L., Kopp, Jeffrey B., Venditti, Charles P.
Publicado em 2013

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: Isolated methylmalonic acidemias (MMA)

Por Manoli, Irini, Myles, Jennifer, Sloan, Jennifer L., Shchelochkov, Oleg A., Venditti, Charles P.
Publicado no Genet Med (2015)

Response to Cunningham et al

Por Manoli, Irini, Myles, Jennifer G., Sloan, Jennifer L., Shchelochkov, Oleg A., Venditti, Charles P.
Publicado no Genet Med (2016)

Leucine and arginine regulate trophoblast motility through mTOR-dependent and independent pathways in the preimplantation mouse embryo

Por González, Isabel M., Martin, Patrick M., Burdsal, Carol, Sloan, Jennifer L., Mager, Sela, Harris, Thurl, Sutherland, Ann E.
Publicado em 2011

Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 pa...

Por Ktena, Yiouli P., Ramstad, Trygg, Baker, Eva H., Sloan, Jennifer L., Mannes, Andrew J., Manoli, Irini, Venditti, Charles P.
Publicado no J Inherit Metab Dis (2015)

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: Cobalamin C deficiency (cblC).()

Por Manoli, Irini, Myles, Jennifer G., Sloan, Jennifer L., Carrillo-Carrasco, Nuria, Morava, Eva, Strauss, Kevin A., Morton, Holmes, Venditti, Charles P.
Publicado no Genet Med (2015)

Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

Por Tanpaiboon, Pranoot, Sloan, Jennifer L., Callahan, Patrick F., McAreavey, Dorothea, Hart, P. Suzanne, Lichter-Konecki, Uta, Zand, Dina, Venditti, Charles P.
Publicado em 2012

Neurocognitive Phenotype of Isolated Methylmalonic Acidemia

Por O’Shea, Colin J., Sloan, Jennifer L., Wiggs, Edythe A., Pao, Maryland, Gropman, Andrea, Baker, Eva H., Manoli, Irini, Venditti, Charles P., Snow, Joseph
Publicado em 2012

Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia

Por Harrington, Elizabeth A., Sloan, Jennifer L., Manoli, Irini, Chandler, Randy J., Schneider, Mark, McGuire, Peter J., Calcedo, Roberto, Wilson, James M., Venditti, Charles P.
Publicado no Hum Gene Ther (2016)

High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency

Por Higashimoto, Tomoyasu, Kim, Alexander Y., Ogawa, Jessica T., Sloan, Jennifer L., Almuqbil, Mohammed A., Carlson, Julia M., Manoli, Irini, Venditti, Charles P., Gunay‐Aygun, Meral, Wang, Tao
Publicado no JIMD Rep (2019)

Diagnosis, management, and complications of glomus tumors of the digits in neurofibromatosis type 1

Por Stewart, Douglas R., Sloan, Jennifer L., Yao, Lawrence, Mannes, Andrew J., Moshyedi, Armin, Lee, Chyi-Chia Richard, Sciot, Raf, De Smet, Luc, Mautner, Victor-Felix, Legius, Eric
Publicado em 2010

A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut(0) methylmalonic acidemia

Por Vernon, Hilary J., Sperati, C. John, King, Joshua D., Poretti, Andrea, Miller, Neil R., Sloan, Jennifer L., Cameron, Andrew M., Myers, Donna, Venditti, Charles P., Valle, David
Publicado no J Inherit Metab Dis (2014)

The proteome of methylmalonic acidemia (MMA): elucidation of altered pathways in patient livers

Por Caterino, Marianna, Chandler, Randy J., Sloan, Jennifer L., Dorko, Kenneth, Cusmano-Ozog, Kristina, Ingenito, Laura, Strom, Stephen C., Imperlini, Esther, Scolamiero, Emanuela, Venditti, Charles P., Ruoppolo, Margherita
Publicado no Mol Biosyst (2016)

Chronic Kidney Disease in Propionic Acidemia

Por Shchelochkov, Oleg A., Manoli, Irini, Sloan, Jennifer L., Ferry, Susan, Pass, Alexandra, Van Ryzin, Carol, Myles, Jennifer, Schoenfeld, Megan, McGuire, Peter, Rosing, Douglas R., Levin, Mark D., Kopp, Jeffrey B., Venditti, Charles P.
Publicado no Genet Med (2019)

Glomus tumors in neurofibromatosis type 1: genetic, functional and clinical evidence of a novel association

Por Brems, Hilde, Park, Caroline, Maertens, Ophélia, Pemov, Alexander, Messiaen, Ludwine, Upadhyaya, Meena, Claes, Kathleen, Beert, Eline, Peeters, Kristel, Mautner, Victor, Sloan, Jennifer L., Yao, Lawrence, Lee, Chyi-Chia Richard, Sciot, Raf, Smet, Luc De, Legius, Eric, Stewart, Douglas R.
Publicado em 2009

The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology

Por Sloan, Jennifer L, Achilly, Nathan P, Arnold, Madeline L, Catlett, Jerrel L, Blake, Trevor, Bishop, Kevin, Jones, Marypat, Harper, Ursula, English, Milton A, Anderson, Stacie, Trivedi, Niraj S, Elkahloun, Abdel, Hoffmann, Victoria, Brooks, Brian P, Sood, Raman, Venditti, Charles P
Publicado no Hum Mol Genet (2020)

Genetic Modifiers of Neurofibromatosis Type 1-Associated Café-au-Lait Macule Count Identified Using Multi-platform Analysis

Por Pemov, Alexander, Sung, Heejong, Hyland, Paula L., Sloan, Jennifer L., Ruppert, Sarah L., Baldwin, Andrea M., Boland, Joseph F., Bass, Sara E., Lee, Hyo Jung, Jones, Kristine M., Zhang, Xijun, Mullikin, James C., Widemann, Brigitte C., Wilson, Alexander F., Stewart, Douglas R.
Publicado em 2014

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

Por Yu, Hung-Chun, Sloan, Jennifer L., Scharer, Gunter, Brebner, Alison, Quintana, Anita M., Achilly, Nathan P., Manoli, Irini, Coughlin, Curtis R., Geiger, Elizabeth A., Schneck, Una, Watkins, David, Suormala, Terttu, Van Hove, Johan L.K., Fowler, Brian, Baumgartner, Matthias R., Rosenblatt, David S., Venditti, Charles P., Shaikh, Tamim H.
Publicado em 2013

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

Por Manoli, Irini, Sysol, Justin R., Li, Lingli, Houillier, Pascal, Garone, Caterina, Wang, Cindy, Zerfas, Patricia M., Cusmano-Ozog, Kristina, Young, Sarah, Trivedi, Niraj S., Cheng, Jun, Sloan, Jennifer L., Chandler, Randy J., Abu-Asab, Mones, Tsokos, Maria, Elkahloun, Abdel G., Rosen, Seymour, Enns, Gregory M., Berry, Gerard T., Hoffmann, Victoria, DiMauro, Salvatore, Schnermann, Jurgen, Venditti, Charles P.
Publicado em 2013