On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium a...

Por Summar, Marshall L., Endo, Fumio, Kölker, Stefan
Publicado no Mol Genet Metab (2014)

Diagnosis, Symptoms, Frequency and Mortality of 260 Patients with Urea Cycle Disorders from a 21-Year, Multicentre Study of Acute Hyperammonaemic Episodes

Por Summar, Marshall L., Dobbelaere, Dries, Brusilow, Saul, Lee, Brendan
Publicado em 2008

Quantitative RT-PCR Comparison of the Urea and Nitric Oxide Cycle Gene Transcripts in Adult Human Tissues

Por Neill, Meaghan Anne, Aschner, Judy, Barr, Frederick, Summar, Marshall L.
Publicado em 2009

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data

Por Chapman, Kimberly A., Gramer, Gwendolyn, Viall, Sarah, Summar, Marshall L.
Publicado no Mol Genet Metab Rep (2018)

Effects of Meals High in Carbohydrate, Protein, and Fat on Ghrelin and Peptide YY Secretion in Prepubertal Children

Por Lomenick, Jefferson P., Melguizo, Maria S., Mitchell, Sabrina L., Summar, Marshall L., Anderson, James W.
Publicado em 2009

The incidence of urea cycle disorders

Por Summar, Marshall L., Koelker, Stefan, Freedenberg, Debra, Le Mons, Cynthia, Haberle, Johannes, Lee, Hye-Seung, Kirmse, Brian
Publicado no Mol Genet Metab (2013)

Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.

Por Wongkittichote, Parith, Cunningham, Gary, Summar, Marshall L., Pumbo, Elena, Forny, Patrick, Baumgartner, Matthias R., Chapman, Kimberly A.
Publicado no Mol Genet Metab (2019)

LACK OF ASSOCIATION BETWEEN AUTISM AND FOUR HEAVY METAL REGULATORY GENES

Por Owens, Sarah E., Summar, Marshall L., Ryckman, Kelli K., Haines, Jonathan L., Reiss, Sara, Summar, Samantha R., Aschner, Michael
Publicado em 2011

Respiratory Syncytial Virus Infection Reduces β(2)-Adrenergic Responses in Human Airway Smooth Muscle

Por Moore, Paul E., Cunningham, Gary, Calder, Mark M., DeMatteo, Anthony D., Peeples, Mark E., Summar, Marshall L., Peebles, R. Stokes
Publicado em 2006

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium

Por Kölker, Stefan, Dobbelaere, Dries, Häberle, Johannes, Burgard, Peter, Gleich, Florian, Summar, Marshall L., Hannigan, Steven, Parker, Samantha, Chakrapani, Anupam, Baumgartner, Matthias R.
Publicado no JIMD Rep (2015)

l-Citrulline ameliorates chronic hypoxia-induced pulmonary hypertension in newborn piglets

Por Ananthakrishnan, Madhumita, Barr, Frederick E., Summar, Marshall L., Smith, Heidi A., Kaplowitz, Mark, Cunningham, Gary, Magarik, Jordan, Zhang, Yongmei, Fike, Candice D.
Publicado no Am J Physiol Lung Cell Mol Physiol (2009)

Low plasma citrulline levels are associated with acute respiratory distress syndrome in patients with severe sepsis

Por Ware, Lorraine B, Magarik, Jordan A, Wickersham, Nancy, Cunningham, Gary, Rice, Todd W, Christman, Brian W, Wheeler, Arthur P, Bernard, Gordon R, Summar, Marshall L
Publicado em 2013

An Ethnic-Specific Polymorphism in the Catalytic Subunit of Glutamate-Cysteine Ligase Impairs the Production of Glutathione Intermediates In Vitro

Por Le, Truc M., Willis, Alecia S., Barr, Frederick E., Cunningham, Gary R., Canter, Jeffrey A., Owens, Sarah E., Apple, Rachel K., Ayodo, George, Reich, David, Summar, Marshall L.
Publicado em 2010

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

Por Li, Zejuan, Schonberg, Rhonda, Guidugli, Lucia, Johnson, Amy Knight, Arnovitz, Stephen, Yang, Sandra, Scafidi, Joseph, Summar, Marshall L, Vezina, Gilbert, Das, Soma, Chapman, Kimberly, del Gaudio, Daniela
Publicado no J Hum Genet (2015)

Evidence That the Saethre-Chotzen Syndrome Locus Lies between D7S664 and D7S507, by Genetic Analysis and Detection of a Microdeletion in a Patient

Por Lewanda, Amy Feldman, Green, Eric D., Weissenbach, Jean, Jerald, Heather, Taylor, Eugene, Summar, Marshall L., Phillips, John A., Cohen, Melinda, Feingold, Murray, Mouradian, Wendy, Clarren, Sterling K., Jabs, Ethylin Wang
Publicado em 1994

γ-Glutamylcysteine Ameliorates Oxidative Injury in Neurons and Astrocytes In Vitro and Increases Brain Glutathione In Vivo

Por Le, Truc M., Jiang, Haiyan, Cunningham, Gary R., Magarik, Jordan A., Barge, William S., Cato, Marilyn C., Farina, Marcelo, Rocha, Joao B. T., Milatovic, Dejan, Lee, Eunsook, Aschner, Michael, Summar, Marshall L.
Publicado em 2010

β(2)-Adrenergic receptor promoter haplotype influences the severity of acute viral respiratory tract infection during infancy: a prospective cohort study

Por Wu, Pingsheng, Larkin, Emma K, Reiss, Sara S, Carroll, Kecia N, Summar, Marshall L, Minton, Patricia A, Woodward, Kimberly B, Liu, Zhouwen, Islam, Jessica Y, Hartert, Tina V, Moore, Paul E
Publicado no BMC Med Genet (2015)

Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes

Por Chapman, Kimberly A., Collado, Maria S., Figler, Robert A., Hoang, Stephen A., Armstrong, Allison J., Cui, Wanxing, Purdy, Michael, Simmers, Michael B., Yazigi, Nada A., Summar, Marshall L., Wamhoff, Brian R., Dash, Ajit
Publicado no Mol Genet Metab (2015)

Cross-Sectional Multi-Center Study of Patients with Urea Cycle Disorders in the United States

Por Tuchman, Mendel, Lee, Brendan, Lichter-Konecki, Uta, Summar, Marshall L., Yudkoff, Marc, Cederbaum, Stephen D., Kerr, Douglas S., Diaz, George A., Seashore, Margaretta R., Lee, Hye-Seung, McCarter, Robert J., Krischer, Jeffrey P., Batshaw, Mark L.
Publicado em 2008

Acute Management of Propionic Acidemia

Por Chapman, Kimberly A, Gropman, Andrea, MacLeod, Erin, Stagni, Kathy, Summar, Marshall L., Ueda, Keiko, Mew, Nicholas Ah, Franks, Jill, Island, Eddie, Matern, Dietrich, Pena, Loren, Smith, Brittany, Sutton, V. Reid, Urv, Tiina, Venditti, Charles, Chakrapani, Anupam
Publicado em 2011