Search Results - "McGovern, Margaret M."

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

“…Acid sphingomyelinase deficiency (ASMD) (also known as Niemann-Pick disease types A and B) is a rare and debilitating lysosomal storage disorder. This…”
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A microbial association with autism by Benach, Jorge L, Li, Ellen, McGovern, Margaret M

“…Autism is a heterogeneous group of complex developmental disabilities that result from a number of possible etiologies. There are a well-known number of…”
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Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD) by McGovern, Margaret M, Avetisyan, Ruzan, Sanson, Bernd-Jan, Lidove, Olivier

“…Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations…”
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The Demographics and Distribution of Type B Niemann-Pick Disease: Novel Mutations Lead to New Genotype/Phenotype Correlations by Simonaro, Calogera M., Desnick, Robert J., McGovern, Margaret M., Wasserstein, Melissa P., Schuchman, Edward H.

“…We have collected demographic and/or mutation information on a worldwide sample of 394 patients with type B Niemann-Pick disease (NPD). The disorder is…”
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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency by McGovern, Margaret M., Dionisi-Vici, Carlo, Giugliani, Roberto, Hwu, Paul, Lidove, Olivier, Lukacs, Zoltan, Eugen Mengel, Karl, Mistry, Pramod K., Schuchman, Edward H., Wasserstein, Melissa P.

“…Disclaimer: This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of…”
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Morbidity and mortality in type B Niemann–Pick disease by McGovern, Margaret M., Lippa, Natalie, Bagiella, Emilia, Schuchman, Edward H., Desnick, Robert J., Wasserstein, Melissa P.

“…The purpose of this study was to perform a systematic evaluation of morbidity and mortality in type B Niemann–Pick ­disease. A total of 103 patients with…”
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Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B by Wasserstein, Melissa, Godbold, James, McGovern, Margaret M.

“…Introduction Niemann-Pick disease (NPD) due to acid sphingomyelinase deficiency is a lipid storage disease resulting from the accumulation of sphingomyelin,…”
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Results from an LGBTQ+ Community Health Needs Assessment in Nassau and Suffolk Counties of New York State by Eliscu, Allison H., Jamilkowski, Jennifer, Gonzalez, Adam, Higham, Jennifer Mesiano, Kenny, Lucy, McGovern, Margaret M.

“…LGBTQ+ individuals experience health care disparities and difficulty accessing affirming care. Little is known regarding the health and experiences among…”
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A Fluorescence-Based, High-Throughput Sphingomyelin Assay for the Analysis of Niemann–Pick Disease and Other Disorders of Sphingomyelin Metabolism by He, Xingxuan, Chen, Fei, McGovern, Margaret M., Schuchman, Edward H.

“…Sphingomyelin is an important lipid component of cell membranes and lipoproteins that can be hydrolyzed by sphingomyelinases into ceramide and…”
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Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann–Pick disease type B (acid sphingomyelinase deficiency) by McGovern, Margaret M., Wasserstein, Melissa P., Kirmse, Brian, Duvall, W. Lane, Schiano, Thomas, Thurberg, Beth L., Richards, Susan, Cox, Gerald F.

“…Enzyme replacement therapy with olipudase alfa (recombinant human acid sphingomyelinase) is being developed for Niemann–Pick disease type B (NPD B). A…”
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Lyso-sphingomyelin is elevated in dried blood spots of Niemann–Pick B patients by Chuang, Wei-Lien, Pacheco, Joshua, Cooper, Samantha, McGovern, Margaret M., Cox, Gerald F., Keutzer, Joan, Zhang, X. Kate

“…Niemann–Pick disease type B (NPD-B) is caused by a partial deficiency of acid sphingomyelinase activity and results in the accumulation of lysosomal…”
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A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B by McGovern, Margaret M, Wasserstein, Melissa P, Giugliani, Roberto, Bembi, Bruno, Vanier, Marie T, Mengel, Eugen, Brodie, Scott E, Mendelson, David, Skloot, Gwen, Desnick, Robert J, Kuriyama, Noriko, Cox, Gerald F

“…The objective of this study was to characterize the clinical features of patients with Niemann-Pick disease type B and to identify efficacy end points for…”
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Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B) by Thurberg, Beth L, Wasserstein, Melissa P, Schiano, Thomas, O'Brien, Fanny, Richards, Susan, Cox, Gerald F, McGovern, Margaret M

“…Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disorder characterized by the pathologic accumulation of sphingomyelin (SM) in multiple cell…”
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Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease by Wasserstein, Melissa P., Aron, Alan, Brodie, Scott E., Simonaro, Calogera, Desnick, Robert J., McGovern, Margaret M.

“…To document the prevalence of neurologic disease in Niemann-Pick disease (NPD) NPD-B. Sixty-four patients with NPD-B had detailed neurologic and ophthalmologic…”
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Randomized Trial of a Decision Aid for BRCA1/BRCA2 Mutation Carriers: Impact on Measures of Decision Making and Satisfaction by Schwartz, Marc D, Valdimarsdottir, Heiddis B, DeMarco, Tiffani A, Peshkin, Beth N, Lawrence, William, Rispoli, Jessica, Brown, Karen, Isaacs, Claudine, O'Neill, Suzanne, Shelby, Rebecca, Grumet, Sherry C, McGovern, Margaret M, Garnett, Sarah, Bremer, Heather, Leaman, Suzanne, O'Mara, Kathryn, Kelleher, Sarah, Komaridis, Kathryn

“…Objective: Genetic testing is increasingly part of routine clinical care for women with a family history of breast cancer. Given their substantially elevated…”
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The Natural History of Type B Niemann-Pick Disease: Results From a 10-Year Longitudinal Study by Wasserstein, Melissa P, Desnick, Robert J, Schuchman, Edward H, Hossain, Sabera, Wallenstein, Sylvan, Lamm, Carin, McGovern, Margaret M

“…Type B Niemann-Pick disease (NPD-B) caused by acid sphingomyelinase deficiency is a rare, autosomal recessive, lysosomal storage disorder with a broad range of…”
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Imaging Manifestations of Niemann-Pick Disease Type B by Simpson, William L., Jr, Mendelson, David, Wasserstein, Melissa P, McGovern, Margaret M

“…The purpose of this article is to illustrate the various imaging manifestations of Niemann-Pick disease type B using various imaging techniques emphasizing…”
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Lipid abnormalities in children with types A and B Niemann Pick disease by McGovern, Margaret M., Pohl-Worgall, Tilla, Deckelbaum, Richard J., Simpson, William, Mendelson, David, Desnick, Robert J., Schuchman, Edward H., Wasserstein, Melissa P.

“…To characterize the lipid profiles in patients with types A and B Niemann Pick disease (NPD) and determine if lipid abnormalities are associated with evidence…”
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Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients by Cox, Gerald F., Clarke, Lorne A., Giugliani, Roberto, McGovern, Margaret M.

“…Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease caused by the deficiency of the enzyme acid…”
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Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing by Mendelson, David S, Wasserstein, Melissa P, Desnick, Robert J, Glass, Ronald, Simpson, William, Skloot, Gwen, Vanier, Marie, Bembi, Bruno, Giugliani, Roberto, Mengel, Eugen, Cox, Gerald F, McGovern, Margaret M

“…To evaluate findings at radiography, computed tomography (CT), and pulmonary function testing in patients with type B Niemann-Pick disease. The study was…”
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