Natural history of type A Niemann-Pick disease : Possible endpoints for therapeutic trials von MCGOVERN, M. M, ARON, A, BRODIE, S. E, DESNICK, R. J, WASSERSTEIN, M. P

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Cerebral glucose metabolism in adults with early treated classic phenylketonuria von Wasserstein, M.P., Snyderman, S.E., Sansaricq, C., Buchsbaum, M.S.

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The Demographics and Distribution of Type B Niemann-Pick Disease: Novel Mutations Lead to New Genotype/Phenotype Correlations von Simonaro, Calogera M., Desnick, Robert J., McGovern, Margaret M., Wasserstein, Melissa P., Schuchman, Edward H.

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Successful pregnancy in severe methylmalonic acidaemia von Wasserstein, M. P., Gaddipati, S., Snyderman, S. E., Eddleman, K., Desnick, R. J., Sansaricq, C.

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Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population von Edelmann, Lisa, Wasserstein, Melissa P., Kornreich, Ruth, Sansaricq, Claude, Snyderman, Selma E., Diaz, George A.

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Types A and B Niemann-Pick disease von Schuchman, Edward H., PhD, Wasserstein, Melissa P., MD

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Fabry disease (alpha-galactosidase A deficiency): renal involvement and enzyme replacement therapy von Desnick, R J, Wasserstein, M P, Banikazemi, M

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The Natural History of Type B Niemann-Pick Disease: Results From a 10-Year Longitudinal Study von Wasserstein, Melissa P, Desnick, Robert J, Schuchman, Edward H, Hossain, Sabera, Wallenstein, Sylvan, Lamm, Carin, McGovern, Margaret M

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Lipid abnormalities in children with types A and B Niemann Pick disease von McGovern, Margaret M., Pohl-Worgall, Tilla, Deckelbaum, Richard J., Simpson, William, Mendelson, David, Desnick, Robert J., Schuchman, Edward H., Wasserstein, Melissa P.

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Newborn Screening for Krabbe Disease: the New York State Model von Duffner, Patricia K., MD, Caggana, Michele, ScD, Orsini, Joseph J., PhD, Wenger, David A., PhD, Patterson, Marc C., MD, Crosley, Carl J., MD, Kurtzberg, Joanne, MD, Arnold, Georgianne L., MD, Escolar, Maria L., MD, Adams, Darius J., MD, Andriola, Mary R., MD, Aron, Alan M., MD, Ciafaloni, Emma, MD, Djukic, Alexandra, MD, Erbe, Richard W., MD, Galvin-Parton, Patricia, MD, Helton, Laura E., MD, MPH, Kolodny, Edwin H., MD, Kosofsky, Barry E., MD, Kronn, David F., MD, Kwon, Jennifer M., MD, Levy, Paul A., MD, Miller-Horn, Jill, MD, Naidich, Thomas P., MD, Pellegrino, Joan E., MD, Provenzale, James M., MD, Rothman, Stanley J., MD, Wasserstein, Melissa P., MD

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Ocular manifestations of Niemann–Pick disease type B von McGovern, Margaret M., Wasserstein, Melissa P., Aron, Alan, Desnick, Robert J., Schuchman, Edward H., Brodie, Scott E.

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Growth restriction in children with type B Niemann-Pick disease von Wasserstein, Melissa P., Larkin, Alexandra E., Glass, Ronald B., Schuchman, Edward H., Desnick, Robert J., McGovern, Margaret M.

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Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: Identification and expression of a novel acid β-glucosidase mutation von Wasserstein, Melissa P., Martignetti, John A., Zeitlin, Robert, Lumerman, Harry, Solomon, Marshall, Grace, Marie E., Desnick, Robert J.

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Biochemical effect of intravenous arginine butyrate in x-linked adrenoleukodystrophy von McGovern, Margaret M., Wasserstein, Melissa P., Aron, Alan, Perrine, Susan P.

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Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations von Chinsky, Jeffrey M, Singh, Rani, Ficicioglu, Can, van Karnebeek, Clara D M, Grompe, Markus, Mitchell, Grant, Waisbren, Susan E, Gucsavas-Calikoglu, Muge, Wasserstein, Melissa P, Coakley, Katie, Scott, C Ronald

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The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants von Wasserstein, Melissa P., Caggana, Michele, Bailey, Sean M., Desnick, Robert J., Edelmann, Lisa, Estrella, Lissette, Holzman, Ian, Kelly, Nicole R., Kornreich, Ruth, Kupchik, S. Gabriel, Martin, Monica, Nafday, Suhas M., Wasserman, Randi, Yang, Amy, Yu, Chunli, Orsini, Joseph J.

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Relation between surgeon volume and risk of complications after total hip arthroplasty: propensity score matched cohort study von Ravi, Bheeshma, Jenkinson, Richard, Austin, Peter C, Croxford, Ruth, Wasserstein, David, Escott, Benjamin, Paterson, J Michael, Kreder, Hans, Hawker, Gillian A

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Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation von McGovern, Margaret M, Wasserstein, Melissa P, Bembi, Bruno, Giugliani, Roberto, Mengel, K Eugen, Vanier, Marie T, Zhang, Qi, Peterschmitt, M Judith

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The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations von Amendola, Laura M., Berg, Jonathan S., Horowitz, Carol R., Angelo, Frank, Bensen, Jeannette T., Biesecker, Barbara B., Biesecker, Leslie G., Cooper, Gregory M., East, Kelly, Filipski, Kelly, Fullerton, Stephanie M., Gelb, Bruce D., Goddard, Katrina A.B., Hailu, Benyam, Hart, Ragan, Hassmiller-Lich, Kristen, Joseph, Galen, Kenny, Eimear E., Koenig, Barbara A., Knight, Sara, Kwok, Pui-Yan, Lewis, Katie L., McGuire, Amy L., Norton, Mary E., Ou, Jeffrey, Parsons, Donald W., Powell, Bradford C., Risch, Neil, Robinson, Mimsie, Rini, Christine, Scollon, Sarah, Slavotinek, Anne M., Veenstra, David L., Wasserstein, Melissa P., Wilfond, Benjamin S., Hindorff, Lucia A., Plon, Sharon E., Jarvik, Gail P.

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Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults von Lachmann, Robin H, Diaz, George A, Wasserstein, Melissa P, Armstrong, Nicole M, Yarramaneni, Abhimanyu, Kim, Yong, Kumar, Monica

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