Mutations of the Flavin-Containing Monooxygenase Gene (FMO3) cause Trimethylaminuria, a Defect in Detoxication von Treacy, E. P., Akerman, B. R., Chow, L. M. L., Youil, R., Lin, C. Bibeau, J., Bruce, A. G., Knight, M., Danks, D. M., Cashman, J. R., Forrest, S. M.

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Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases von Phaneuf, Daniel, Wakamatsu, Nobuaki, Huang, Jing-Qi, Borowski, Anita, Peterson, Alan C., Fortunato, Sheila R., Ritter, Gerd, Igdoura, Suleiman A., Morales, Carlos R., Benoit, Guylaine, Akerman, Beverly R., Leclerc, Daniel, Hanai, Nobuo, Marth, Jamey D., Trasler, Jacquetta M., Gravel, Roy A.

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Trimethylaminuria Is Caused by Mutations of the FMO3 Gene in a North American Cohort von Akerman, B.R., Lemass, H., Chow, L.M.L., Lambert, D.M., Greenberg, C., Bibeau, C., Mamer, O.A., Treacy, E.P.

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Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria von Waters, P. J., Parniak, M. A., Akerman, B. R., Jones, A. O., Scriver, C. R.

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Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease von TRIGGS-RAINE, B. L, AKERMAN, B. R, CLARKE, J. T. R, GRAVAL, R. A

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Two novel mutations of the FMO3 gene in a proband with trimethylaminuria von Akerman, B.R., Forrest, S., Chow, L., Youil, R., Knight, M., Treacy, E.P.

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Mutations participating in interallelic complementation in propionic acidemia von GRAVEL, R. A, AKERMAN, B. R, LAMHONWAH, A.-M, LOYER, M, LEON-DEL-RIO, A, ITALIANO, I

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Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease von AKERMAN, B. R, NATOWICZ, M. R, KABACK, M. M, LOYER, M, CAMPEAU, E, GRAVEL, R. A

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A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening von Triggs-Raine, B L, Mules, E H, Kaback, M M, Lim-Steele, J S, Dowling, C E, Akerman, B R, Natowicz, M R, Grebner, E E, Navon, R, Welch, J P

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Characterization of Phenylketonuria Missense Substitutions, Distant from the Phenylalanine Hydroxylase Active Site, Illustrates a Paradigm for Mechanism and Potential Modulation of... von Waters, Paula J., Parniak, Michael A., Akerman, Beverly R., Scriver, Charles R.

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A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease von Zhang, Zhi-Xin, Wakamatsu, Nobuaki, Akerman, Beverly R., Mules, Emily H., Thomas, George H., Gravel, Roy A.

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In Vivo Variability of TMA Oxidation Is Partially Mediated by Polymorphisms of the FMO3 Gene von Lambert, Deborah M., Mamer, Orval A., Akerman, Beverley R., Choinière, Luc, Gaudet, Daniel, Hamet, Pavel, Treacy, Eileen P.

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Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease von Özkara, H. A., Akerman, B. R., Ciliv, G., Topçu, M., Renda, Y., Gravel, R. A.

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Reflections on the birth of conjoined twins von Poole, Richard F

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A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria von FORREST, Susan M, KNIGHT, Melanie, AKERMAN, Beverley R, CASHMAN, John R, TREACY, Eileen P

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A mutation common in non-jewish Tay-Sachs disease: Frequency and RNA studies von Akerman, B. R., Zielenski, J., Triggs-Raine, B. L., Prence, E. M., Natowicz, M. R., Lim-Steele, J. S. T., Kaback, M. M., Mules, E. H., Thomas, G. H., Clarke, J. T. R., Gravel, R. A.

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Identification of deletion and triple α-globin gene haplotypes in the montreal β-thalassemia screening program: Implications for genetic medicine von Akerman, Beverly R., Fujiwara, T. Mary, Lancaster, Gerald A., Morgan, Kenneth, Scriver, Charles R.

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Characterization of Phenylketonuria Missense Substitutions, Distant from the Phenylalanine Hydroxylase Active Site, Illustrates a Paradigm for Mechanism and Potential Modulation of... von Waters, Paula J., Parniak, Michael A., Akerman, Beverly R., Scriver, Charles R.

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Donor splice site mutation in intron 5 of theHEXA gene in a Turkish infant with Tay-Sachs disease von Özkara, H. A., Akerman, B. R., Ciliv, G., Topçu, M., Renda, Y., Gravel, R. A.

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Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch von Mules, E H, Hayflick, S, Dowling, C E, Kelly, T E, Akerman, B R, Gravel, R A, Thomas, G H

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