Search Results - "PACKMAN, Seymour"

Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5) by Urban, Thomas J, Gallagher, Renata C, Brown, Chaline, Castro, Richard A, Lagpacan, Leah L, Brett, Claire M, Taylor, Travis R, Carlson, Elaine J, Ferrin, Thomas E, Burchard, Esteban G, Packman, Seymour, Giacomini, Kathleen M

“…Systemic carnitine deficiency (SCD) is a rare autosomal recessive disease resulting from defects in the OCTN2 (SLC22A5) gene, which encodes the high-affinity…”
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Ocular findings in a patient with fucosidosis by Sánchez, Lucía Rivera, Oatts, Julius T, Duncan, Jacque L, Packman, Seymour, Moore, Anthony T

“…Abstract Purpose To describe the ocular findings in a patient with fucosidosis, a rare inborn lysosomal storage disease. Observations A 14 year-old female…”
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The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency by Baumgartner, M R, Almashanu, S, Suormala, T, Obie, C, Cole, R N, Packman, S, Baumgartner, E R, Valle, D

“…Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism that appears to be the…”
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Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male by Klein, Ophir D., Kostiner, Dana R., Weisiger, Kara, Moffatt, Ellen, Lindeman, Neal, Goodman, Stephen, Tuchman, Mendel, Packman, Seymour

“…Ornithine transcarbamylase (OTC) deficiency is an X-linked urea cycle defect. While hemizygous males typically present with hyperammonemic coma in infancy,…”
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Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease by Germain, Dominique P, Charrow, Joel, Desnick, Robert J, Guffon, Nathalie, Kempf, Judy, Lachmann, Robin H, Lemay, Roberta, Linthorst, Gabor E, Packman, Seymour, Scott, C Ronald, Waldek, Stephen, Warnock, David G, Weinreb, Neal J, Wilcox, William R

“…Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic…”
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Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease by MURATA, Y, KODAMA, H, ABE, T, ISHIDA, N, NISHIMURA, M, LEVINSON, B, GITSCHIER, J, PACKMAN, S

“…The gene for Menkes disease, an X-linked disorder of copper transport, has recently been identified and shown to encode a copper-transporting P-type ATPase…”
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The mottled gene is the mouse homologue of the Menkes disease gene by Levinson, Barbara, Vulpe, Christopher, Elder, Bruce, Martin, Christopher, Verley, Frank, Packman, Seymour, Gitschier, Jane

“…The mottled mouse has been proposed as an animal model for Menkes disease, an X-linked disorder of copper transport. The recent isolation of a…”
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Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1: The ENGAGE Randomized Clinical Trial by Mistry, Pramod K, Lukina, Elena, Ben Turkia, Hadhami, Amato, Dominick, Baris, Hagit, Dasouki, Majed, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Pastores, Gregory, Petakov, Milan, Assouline, Sarit, Balwani, Manisha, Danda, Sumita, Hadjiev, Evgueniy, Ortega, Andres, Shankar, Suma, Solano, Maria Helena, Ross, Leorah, Angell, Jennifer, Peterschmitt, M. Judith

“…IMPORTANCE: Gaucher disease type 1 is characterized by hepatosplenomegaly, anemia, thrombocytopenia, and skeletal disease. A safe, effective oral therapy is…”
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Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1 by Alioto, Andrea G., Gomez, Rowena, Moses, James, Paternostro, Jennifer, Packman, Seymour, Packman, Wendy

“…This study examined the health‐related quality of life (HRQoL) and psychological functioning of children and young adults with Gaucher disease, type 1 (GD1)…”
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Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial by Mistry, Pramod K., Lukina, Elena, Ben Turkia, Hadhami, Shankar, Suma P., Baris, Hagit, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Pastores, Gregory, Petakov, Milan, Assouline, Sarit, Balwani, Manisha, Danda, Sumita, Hadjiev, Evgueniy, Ortega, Andres, Gaemers, Sebastiaan J. M., Tayag, Regina, Peterschmitt, M. Judith

“…Eliglustat, an oral substrate reduction therapy, is a first‐line treatment for adults with Gaucher disease type 1 (GD1) who are poor, intermediate, or…”
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Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases by Cassiman, David, Packman, Seymour, Bembi, Bruno, Turkia, Hadhami Ben, Al-Sayed, Moeenaldeen, Schiff, Manuel, Imrie, Jackie, Mabe, Paulina, Takahashi, Tsutomu, Mengel, Karl Eugen, Giugliani, Roberto, Cox, Gerald F.

“…Acid sphingomyelinase deficiency (ASMD), [Niemann-Pick Disease Types A and B (NPD A and B)], is an inherited metabolic disorder resulting from deficiency of…”
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Gaucher disease and SARS-CoV-2 infection: Emerging management challenges by Mistry, Pramod, Balwani, Manisha, Barbouth, Deborah, Burrow, T. Andrew, Ginns, Edward I., Goker-Alpan, Ozlem, Grabowski, Gregory A., Kartha, Reena V., Kishnani, Priya S., Lau, Heather, Lee, Chung U., Lopez, Grisel, Maegawa, Gustavo, Packman, Seymour, Prada, Carlos, Rosenbloom, Barry, Lal, Tamanna Roshan, Schiffmann, Rapheal, Weinreb, Neal, Sidransky, Ellen

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Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results by Mistry, Pramod K., Lukina, Elena, Ben Turkia, Hadhami, Shankar, Suma P., Feldman, Hagit, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Lau, Heather, Petakov, Milan, Assouline, Sarit, Balwani, Manisha, Danda, Sumita, Hadjiev, Evgueniy, Ortega, Andres, Foster, Meredith C., Gaemers, Sebastiaan J. M., Peterschmitt, M. Judith

“…Eliglustat, an oral substrate reduction therapy, is approved for eligible adults with Gaucher disease type 1. In the Phase 3 ENGAGE trial of previously…”
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Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy by Schiffmann, Raphael, Warnock, David G., Banikazemi, Maryam, Bultas, Jan, Linthorst, Gabor E., Packman, Seymour, Sorensen, Sven Asger, Wilcox, William R., Desnick, Robert J.

“…Background. In Fabry disease, progressive glycolipid accumulation leads to organ damage and early demise, but the incidence of renal, cardiac and…”
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Agalsidase-beta therapy for advanced Fabry disease: a randomized trial by Banikazemi, Maryam, Bultas, Jan, Waldek, Stephen, Wilcox, William R, Whitley, Chester B, McDonald, Marie, Finkel, Richard, Packman, Seymour, Bichet, Daniel G, Warnock, David G, Desnick, Robert J

“…Fabry disease (alpha-galactosidase A deficiency) is a rare, X-linked lysosomal storage disorder that can cause early death from renal, cardiac, and…”
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An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease by Kazi, Zoheb B., Desai, Ankit K., Troxler, R. Bradley, Kronn, David, Packman, Seymour, Sabbadini, Marta, Rizzo, William B., Scherer, Katalin, Abdul-Rahman, Omar, Tanpaiboon, Pranoot, Nampoothiri, Sheela, Gupta, Neerja, Feigenbaum, Annette, Niyazov, Dmitriy M., Sherry, Langston, Segel, Reeval, McVie-Wylie, Alison, Sung, Crystal, Joseph, Alexandra M., Richards, Susan, Kishnani, Priya S.

“…Purpose To investigate immune tolerance induction with transient low-dose methotrexate (TLD-MTX) initiated with recombinant human acid α-glucosidase (rhGAA),…”
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Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy by DESNICK, Robert J, BRADY, Roscoe, BARRANGER, John, COLLINS, Allan J, GERMAIN, Dominique P, GOLDMAN, Martin, GRABOWSKI, Gregory, PACKMAN, Seymour, WILCOX, William R

“…Fabry disease (alpha-galactosidase A deficiency) is an X-linked recessive lysosomal storage disorder. Although the disease presents in childhood and culminates…”
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Clinical outcomes after 4.5years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results by Mistry, Pramod K, Lukina, Elena, Hadhami Ben Turkia, Shankar, Suma P, Feldman, Hagit Baris, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Lau, Heather, Petakov, Milan, Assouline, Sarit, Balwani, Manisha, Danda, Sumita, Hadjiev, Evgueniy, Ortega, Andres, Foster, Meredith C, Gaemers, Sebastiaan J M, Peterschmitt, M Judith

“…Eliglustat, an oral substrate reduction therapy, is approved for eligible adults with Gaucher disease type 1. In the Phase 3 ENGAGE trial of previously…”
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THE HEART IN GAUCHER DISEASE: AN ECHOCARDIOGRAPHIC STUDY by Ranjan, Rupesh, Ipek, Esra Gucuk, Weisiger, Kara, Ryvlin, Antonina, Packman, Seymour, Harris, Ian

“…Genotype N370S/N370S N370S/L444P N370S/84GG other all PASP (mmHg) 25.6 ± 6 26.2 ± 6 27.9 ± 8 25.3 ± 6 26 ± 6 LVMI (gm/m2) 79 ± 30 75 ± 27 78 ± 38 75 ± 25 75 ±…”
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COVID-19 patient impact: A survey of the Gaucher community involving patients, caregivers and family members based in the US to determine impact of the pandemic by Ryan, Emory, Lopez, Grisel, Balwani, Manisha, Barbouth, Deborah, Burrow, T. Andrew, Ginns, Edward, Goker-Alpan, Ozlem, Grabowski, Gregory, Kartha, Reena, Kishnani, Priya, Lau, Heather, Lee, Chung, Mistry, Pramod, Maegawa, Gustavo, Packman, Seymour, Prada, Carlos, Rosenbloom, Barry, Lal, Tamanna Roshan, Schiffmann, Raphael, Weinreb, Neal, Sidransky, Ellen

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