Penicillamine therapy in pediatric cystinuria: experience from a cohort of American children

Por DeBerardinis, Ralph J., Coughlin, Curtis R., Kaplan, Paige
Publicado em 2008

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns

Por Coughlin, Curtis R, Scharer, Gunter H, Shaikh, Tamim H
Publicado em 2012

Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report

Por Coughlin, Curtis R., Hyland, Keith, Randall, Rebecca, Ficicioglu, Can
Publicado em 2012

Child Neurology: A case illustrating the role of imaging in evaluation of sudden infant death

Por Kranick, Sarah M., Ganesh, Jaya, Coughlin, Curtis R., Licht, Daniel J.
Publicado em 2009

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease...

Por Yu, Hung-Chun, Coughlin, Curtis R., Geiger, Elizabeth A., Salvador, Blake J., Elias, Ellen R., Cavanaugh, Jean L., Chatfield, Kathryn C., Miyamoto, Shelley D., Shaikh, Tamim H.
Publicado no Cold Spring Harb Mol Case Stud (2016)

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

Por Chatfield, Kathryn C., Coughlin, Curtis R., Friederich, Marisa W., Gallagher, Renata C., Hesselberth, Jay R., Lovell, Mark A., Ofman, Rob, Swanson, Michael A., Thomas, Janet A., Wanders, Ronald J.A., Wartchow, Eric P., Van Hove, Johan L.K.
Publicado no Mitochondrion (2015)

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

Por Swanson, Michael A., Coughlin, Curtis R., Scharer, Gunter H., Szerlong, Heather J., Bjoraker, Kendra J., Spector, Elaine B., Creadon‐Swindell, Geralyn, Mahieu, Vincent, Matthijs, Gert, Hennermann, Julia B., Applegarth, Derek A., Toone, Jennifer R., Tong, Suhong, Williams, Kristina, Van Hove, Johan L. K.
Publicado no Ann Neurol (2015)

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

Clinical and biochemical characterization of four patients with mutations in ECHS1

Por Ferdinandusse, Sacha, Friederich, Marisa W., Burlina, Alberto, Ruiter, Jos P. N., Coughlin, Curtis R., Dishop, Megan K., Gallagher, Renata C., Bedoyan, Jirair K., Vaz, Frédéric M., Waterham, Hans R., Gowan, Katherine, Chatfield, Kathryn, Bloom, Kaitlyn, Bennett, Michael J., Elpeleg, Orly, Van Hove, Johan L. K., Wanders, Ronald J. A.
Publicado no Orphanet J Rare Dis (2015)

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

Por Wortmann, Saskia B., Chen, Margaret A., Colombo, Roberto, Pontoglio, Alessandro, Alhaddad, Bader, Botto, Lorenzo D., Yuzyuk, Tatiana, Coughlin, Curtis R., Descartes, Maria, Grűnewald, Stephanie, Maranda, Bruno, Mills, Philippa B., Pitt, James, Potente, Catherine, Rodenburg, Richard, Kluijtmans, Leo A. J., Sampath, Srirangan, Pai, Emil F., Wevers, Ron A., Tiller, George E.
Publicado no J Inherit Metab Dis (2017)

Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

Por van Karnebeek, Clara D. M., Stockler-Ipsiroglu, Sylvia, Jaggumantri, Sravan, Assmann, Birgit, Baxter, Peter, Buhas, Daniela, Bok, Levinus A., Cheng, Barbara, Coughlin, Curtis R., Das, Anibh M., Giezen, Alette, Al-Hertani, Wahla, Ho, Gloria, Meyer, Uta, Mills, Philippa, Plecko, Barbara, Struys, Eduard, Ueda, Keiko, Albersen, Monique, Verhoeven, Nanda, Gospe, Sidney M., Gallagher, Renata C., Van Hove, Johan K. L., Hartmann, Hans
Publicado no JIMD Rep (2014)

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Por Baker, Peter R., Friederich, Marisa W., Swanson, Michael A., Shaikh, Tamim, Bhattacharya, Kaustuv, Scharer, Gunter H., Aicher, Joseph, Creadon-Swindell, Geralyn, Geiger, Elizabeth, MacLean, Kenneth N., Lee, Wang-Tso, Deshpande, Charu, Freckmann, Mary-Louise, Shih, Ling-Yu, Wasserstein, Melissa, Rasmussen, Malene B., Lund, Allan M., Procopis, Peter, Cameron, Jessie M., Robinson, Brian H., Brown, Garry K., Brown, Ruth M., Compton, Alison G., Dieckmann, Carol L., Collard, Renata, Coughlin, Curtis R., Spector, Elaine, Wempe, Michael F., Van Hove, Johan L.K.
Publicado em 2014