Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic... von Rady, Peter L., Szucs, Sylvia, Grady, James, Hudnall, S. David, Kellner, Leonard H., Nitowsky, Harold, Tyring, Stephen K., Matalon, Reuben K.

Volltext

Genetic Polymorphism (G80A) of Reduced Folate Carrier Gene in Ethnic Populations von Rady, Peter L., Szucs, Sylvia, Matalon, Reuben K., Grady, James, Hudnall, S.David, Kellner, Leonard H., Nitowsky, Harold

Volltext

Methylenetetrahydrofolate Reductase (MTHFR): High Incidence of Mutation C677T in Ashkenazi Jewish Population von Matalon, Reuben K, Tyring, Stephen K, Rady, Peter, Hudnall, S David, Vargas, Trini, Nitowsky, Harold, Kellner, Leonard H

Volltext

Methylenetetrahydrofolate reductase (MTHFR): The incidence of mutations C677T and A1298C in the Ashkenazi Jewish population von Rady, Peter L., Tyring, Stephen K., Hudnall, S. David, Vargas, Trini, Kellner, Leonard H., Nitowsky, Harold, Matalon, Reuben K.

Volltext

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations von Wolf, Nicole I, Vanderver, Adeline, van Spaendonk, Rosalina M.L, Schiffmann, Raphael, Brais, Bernard, Bugiani, Marianna, Sistermans, Erik, Catsman-Berrevoets, Coriene, Kros, Johan M, Pinto, Pedro Soares, Pohl, Daniela, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Fribourg, Sébastien, Demos, Michelle, Pizzino, Amy, Naidu, Sakkubai, Guerrero, Kether, van der Knaap, Marjo S, Bernard, Geneviève

Volltext

The Maternal Phenylketonuria International Study: 1984-2002 von KOCH, Richard, HANLEY, William, WAISBREN, Susan, WIDAMAN, Keith, JIAPING NING, FRIEDMAN, Eva G, DE LA CRUZ, Felix, LEVY, Harvey, MATALON, Kim, MATALON, Reuben, ROUSE, Bobbye, TREFZ, Frederick, GÜTTLER, Flemming, AZEN, Colleen, PLATT, Larry

Volltext

Association between Cytokine Gene Polymorphisms and Risk for Upper Respiratory Tract Infection and Acute Otitis Media von Revai, Krystal, Patel, Janak A., Grady, James J., Nair, Sangeeta, Matalon, Reuben, Chonmaitree, Tasnee

Volltext

Future role of large neutral amino acids in transport of phenylalanine into the brain von MATALON, Reuben, SURENDRAN, Sankar, MATALON, Kimberlee Michals, TYRING, Stephen, QUAST, Michael, WEI JINGA, EZELL, Edward, SZUCS, Sylvia

Volltext

Trends in enzyme therapy for phenylketonuria von Kim, Woomi, Erlandsen, Heidi, Surendran, Sankar, Stevens, Raymond C, Gamez, Alejandra, Michols-Matalon, Kimberlee, Tyring, Stephen K, Matalon, Reuben

Volltext

Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for canavan disease von Matalon, Reuben, Surendran, Sankar, Rady, Peter L, Quast, Michael J, Campbell, Gerald A, Matalon, Kimberlee M, Tyring, Stephen K, Wei, Jingna, Peden, Carmen S, Ezell, E.d L, Muzyczka, Nicholas, Mandel, Ronald J

Volltext

Response of Phenylketonuria to Tetrahydrobiopterin von Michals-Matalon, Kimberlee, Bhatia, Gita, Guttler, Flemming, Tyring, Stephen K, Matalon, Reuben

Volltext

Biochemistry and molecular biology of Canavan disease von MATALON, R, MICHALS-MATALON, K

Volltext

Expression of calpastatin, minopontin, NIPSNAP1, rabaptin-5 and neuronatin in the phenylketonuria (PKU) mouse brain: Possible role on cognitive defect seen in PKU von Surendran, Sankar, Tyring, Stephen K., Matalon, Reuben

Volltext

Persistence of müllerian duct structures in a genetic male with distal monosomy 10q von Tosur, Mustafa, Geary, Cara A., Matalon, Reuben, Radhakrishnan, Ravi S., Swischuk, Leonard E., Tarry, William F., Dong, Jianli, Lee, Phillip D. K.

Volltext

Upregulation of aspartoacylase activity in the duodenum of obesity induced diabetes mouse: Implications on diabetic neuropathy von Surendran, Sankar, Matalon, Reuben, Tyring, Stephen K.

Volltext

Biopterin responsive phenylalanine hydroxylase deficiency von Matalon, Reuben, Koch, Richard, Michals-Matalon, Kimberlee, Moseley, Kathryn, Surendran, Sankar, Tyring, Stephen, Erlandsen, Heidi, Gamez, Alejandra, Stevens, Raymond C., Romstad, Anne, Møller, Lisbeth B., Guttler, Flemming

Volltext

Response of patients with phenylketonuria in the US to tetrahydrobiopterin von Matalon, Reuben, Michals-Matalon, Kimberlee, Koch, Richard, Grady, James, Tyring, Stephen, Stevens, Raymond C.

Volltext

Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system von Matalon, Reuben, Rady, Peter L., Platt, Kenneth A., Skinner, Henry B., Quast, Michael J., Campbell, Gerald A., Matalon, Kimberlee, Ceci, Jeffrey D., Tyring, Stephen K., Nehls, Michael, Surendran, Sankar, Wei, Jingna, Ezell, Ed L., Szucs, Sylvia

Volltext

Molecular Basis of Canavan's Disease: From Human to Mouse von Surendran, Sankar, Matalon, Kimberlee M., Tyring, Stephen K., Matalon, Reuben

Volltext

Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome von KONDI WONG, ARMSTRONG, Regina C, BRADLEY, Courtney A, CRUTCHFIELD, Kevin, SCHIFFMANN, Raphael, GYURE, Kymberly A, MORRISON, Alan L, RODRIGUEZ, Diana, MATALON, Reuben, JOHNSON, Anne B, WOLLMANN, Robert, GILBERT, Enid, LE, Tuan Q

Volltext