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...

av Summar, Marshall L., Endo, Fumio, Kölker, Stefan
I publikationen 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

av Summar, Marshall L., Dobbelaere, Dries, Brusilow, Saul, Lee, Brendan
Publicerad 2008

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

av Neill, Meaghan Anne, Aschner, Judy, Barr, Frederick, Summar, Marshall L.
Publicerad 2009

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

av Chapman, Kimberly A., Gramer, Gwendolyn, Viall, Sarah, Summar, Marshall L.
I publikationen Mol Genet Metab Rep (2018)

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

av Lomenick, Jefferson P., Melguizo, Maria S., Mitchell, Sabrina L., Summar, Marshall L., Anderson, James W.
Publicerad 2009

The incidence of urea cycle disorders

av Summar, Marshall L., Koelker, Stefan, Freedenberg, Debra, Le Mons, Cynthia, Haberle, Johannes, Lee, Hye-Seung, Kirmse, Brian
I publikationen Mol Genet Metab (2013)

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

av Wongkittichote, Parith, Cunningham, Gary, Summar, Marshall L., Pumbo, Elena, Forny, Patrick, Baumgartner, Matthias R., Chapman, Kimberly A.
I publikationen Mol Genet Metab (2019)

LACK OF ASSOCIATION BETWEEN AUTISM AND FOUR HEAVY METAL REGULATORY GENES

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

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

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

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

av Kölker, Stefan, Dobbelaere, Dries, Häberle, Johannes, Burgard, Peter, Gleich, Florian, Summar, Marshall L., Hannigan, Steven, Parker, Samantha, Chakrapani, Anupam, Baumgartner, Matthias R.
I publikationen JIMD Rep (2015)

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

av Ananthakrishnan, Madhumita, Barr, Frederick E., Summar, Marshall L., Smith, Heidi A., Kaplowitz, Mark, Cunningham, Gary, Magarik, Jordan, Zhang, Yongmei, Fike, Candice D.
I publikationen Am J Physiol Lung Cell Mol Physiol (2009)

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

av 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
Publicerad 2013

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

av 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.
Publicerad 2010

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

av 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
I publikationen 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

av 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
Publicerad 1994

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

av 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.
Publicerad 2010

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

av 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
I publikationen BMC Med Genet (2015)

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

av 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
I publikationen Mol Genet Metab (2015)

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

av 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.
Publicerad 2008

Acute Management of Propionic Acidemia

av 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
Publicerad 2011