Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy

Por Stabler, Sally P., Freehauf, Cynthia, Allen, Robert H., Thomas, Janet, Gallagher, Renata
Publicado no JIMD Rep (2017)

Low Bone Mineral Density is a Common Finding in Patients with Homocystinuria

Por Weber, David R., Coughlin, Curtis, Brodsky, Jill L., Lindstrom, Kristin, Ficicioglu, Can, Kaplan, Paige, Freehauf, Cynthia L., Levine, Michael A.
Publicado no Mol Genet Metab (2015)

Methionine Adenosyltransferase I/III Deficiency: Novel Mutationsand Clinical Variations

Por Chamberlin, Margaret E., Ubagai, Tsuneyuki, Mudd, S. Harvey, Thomas, Janet, Pao, Vivian Y., Nguyen, Thien K., Levy, Harvey L., Greene, Carol, Freehauf, Cynthia, Chou, Janice Yang
Publicado em 2000

Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria

Por Keating, Amy K., Freehauf, Cynthia, Jiang, Hua, Brodsky, Gary L., Stabler, Sally P., Allen, Robert H., Graham, Douglas K., Thomas, Janet A., Van Hove, Johan L.K., Maclean, Kenneth N.
Publicado em 2011

MANAGEMENT OF A PATIENT WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

Por Van Hove, Johan LK, Josefsberg, Sagi, Freehauf, Cynthia, Thomas, Janet A., Thuy, Le Phuc, Barshop, Bruce A., Woontner, Michael, Mock, Donald M, Chiang, Pei-Wen, Spector, Elaine, Meneses-Morales, Iván, Cervantes-Roldán, Rafael, León-Del-Río, Alfonso
Publicado em 2008

Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

Por Chien, Yin-Hsiu, Abdenur, Jose E., Baronio, Federico, Bannick, Allison Anne, Corrales, Fernando, Couce, Maria, Donner, Markus G., Ficicioglu, Can, Freehauf, Cynthia, Frithiof, Deborah, Gotway, Garrett, Hirabayashi, Koichi, Hofstede, Floris, Hoganson, George, Hwu, Wuh-Liang, James, Philip, Kim, Sook, Korman, Stanley H., Lachmann, Robin, Levy, Harvey, Lindner, Martin, Lykopoulou, Lilia, Mayatepek, Ertan, Muntau, Ania, Okano, Yoshiyuki, Raymond, Kimiyo, Rubio-Gozalbo, Estela, Scholl-Bürgi, Sabine, Schulze, Andreas, Singh, Rani, Stabler, Sally, Stuy, Mary, Thomas, Janet, Wagner, Conrad, Wilson, William G., Wortmann, Saskia, Yamamoto, Shigenori, Pao, Maryland, Blom, Henk J.
Publicado no Orphanet J Rare Dis (2015)