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

Tekijä Stabler, Sally P., Freehauf, Cynthia, Allen, Robert H., Thomas, Janet, Gallagher, Renata
Julkaisussa JIMD Rep (2017)

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

Tekijä Weber, David R., Coughlin, Curtis, Brodsky, Jill L., Lindstrom, Kristin, Ficicioglu, Can, Kaplan, Paige, Freehauf, Cynthia L., Levine, Michael A.
Julkaisussa Mol Genet Metab (2015)

Methionine Adenosyltransferase I/III Deficiency: Novel Mutationsand Clinical Variations

Tekijä 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
Julkaistu 2000

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

Tekijä 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.
Julkaistu 2011

MANAGEMENT OF A PATIENT WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

Tekijä 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
Julkaistu 2008

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

Tekijä 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.
Julkaisussa Orphanet J Rare Dis (2015)