Zobrazeno 1 - 10
of 132
pro vyhledávání: '"Seymour Packman"'
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 4, Iss C, Pp 83-86 (2016)
Purpose: To describe the ocular findings in a patient with fucosidosis, a rare inborn lysosomal storage disease. Observations: A 14 year-old female presented with angiokeratomas corporis diffusum, coarse facial features, poor verbal skills, hearing i
Externí odkaz:
https://doaj.org/article/179e74c1753e48d4a2d8811e80b8069d
Autor:
Pramod K. Mistry, Evgueniy Hadjiev, Sebastiaan J.M. Gaemers, Suma P. Shankar, Marwan Ghosn, Sarit Assouline, Andres Ortega, Heather Lau, Seymour Packman, Sumita Danda, Elena Lukina, M. Judith Peterschmitt, Hagit Baris Feldman, Milan Petakov, Hadhami Ben Turkia, Meredith C. Foster, Atul Mehta, Manisha Balwani
Publikováno v:
American Journal of Hematology
Eliglustat, an oral substrate reduction therapy, is approved for eligible adults with Gaucher disease type 1. In the Phase 3 ENGAGE trial of previously untreated adults with Gaucher disease type 1, eliglustat‐treated patients had statistically sign
Autor:
Wendy Packman, Jennifer Paternostro, Rowena Gomez, Seymour Packman, James A. Moses, Andrea G. Alioto
Publikováno v:
American Journal of Medical Genetics Part A. 182:1130-1142
This study examined the health-related quality of life (HRQoL) and psychological functioning of children and young adults with Gaucher disease, type 1 (GD1). Thirty-two (17 pediatric, 15 young adult) patients with GD1 and one parent completed age-app
Publikováno v:
Medical Research Archives. 10
This exploratory study aimed to evaluate the cognitive and executive functioning of sixteen pediatric and fifteen young adult (ages 5 through 30) patients with Gaucher disease, Type 1. The neurocognitive functioning of children with Gaucher disease,
Autor:
Manisha Balwani, Ozlem Goker-Alpan, Neal J. Weinreb, Grisel Lopez, Tamanna Roshan Lal, Gustavo Maegawa, Seymour Packman, Edward I. Ginns, Reena V. Kartha, Heather Lau, T. Andrew Burrow, Raphael Schiffmann, Priya S. Kishnani, Pramod K. Mistry, Gregory A. Grabowski, Emory Ryan, Carlos E. Prada, Deborah Barbouth, Ellen Sidransky, Barry E. Rosenbloom, Chung Lee
Publikováno v:
Molecular Genetics and Metabolism
Autor:
Neal J. Weinreb, Edward I. Ginns, Manisha Balwani, Priya S. Kishnani, Ellen Sidransky, Rapheal Schiffmann, Heather Lau, T. Andrew Burrow, Gregory A. Grabowski, Chung Lee, Grisel Lopez, Reena V. Kartha, Pramod K. Mistry, Barry E. Rosenbloom, Carlos E. Prada, Gustavo Maegawa, Seymour Packman, Ozlem Goker-Alpan, Tamanna Roshan Lal, Deborah Barbouth
Publikováno v:
Molecular Genetics and Metabolism
Autor:
H. Tang, William R. Wilcox, Karen Leydiker, H.J. Lin, Natalie M. Gallant, Yael Wilnai, Seymour Packman, Gregory M. Enns, Chung Lee, Jose E. Abdenur, Lisa Feuchtbaum, Fred Lorey, Jennifer M. Carter, Stephen D. Cederbaum
Publikováno v:
Molecular Genetics and Metabolism. 122:76-84
Carnitine transporter defect (CTD; also known as systemic primary carnitine deficiency; MIM 212140) is due to mutations in the SLC22A5 gene and leads to extremely low carnitine levels in blood and tissues. Affected individuals may develop early onset
Autor:
Sarit Assouline, Manisha Balwani, Andres Ortega, Pramod K. Mistry, Evgueniy Hadjiev, Marwan Ghosn, Sumita Danda, Heather Lau, Atul Mehta, Hagit Baris Feldman, Suma P. Shankar, Sebastiaan J.M. Gaemers, Meredith C. Foster, Hadhami Ben Turkia, Milan Petakov, Seymour Packman, Elena Lukina, M. Judith Peterschmitt
Publikováno v:
Molecular Genetics and Metabolism. 129:S110-S111
Autor:
R. Bradley Troxler, Marta Sabbadini, Neerja Gupta, David Kronn, Ankit K. Desai, Katalin Scherer, Susan M. Richards, Alison McVie-Wylie, Priya S. Kishnani, Reeval Segel, Langston Sherry, Alexandra Joseph, Pranoot Tanpaiboon, William B. Rizzo, Crystal Sung, Seymour Packman, Sheela Nampoothiri, Zoheb B. Kazi, Omar A. Abdul-Rahman, Annette Feigenbaum, Dmitriy Niyazov
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: To investigate immune tolerance induction with transient low-dose methotrexate (TLD-MTX) initiated with recombinant human acid α-glucosidase (rhGAA), in treatment-naïve cross-reactive immunologic material (CRIM)-positive infantile-onset Po
Autor:
Seymour Packman, M. Judith Peterschmitt, Atul Mehta, Manisha Balwani, Sarit Assouline, Gregory M. Pastores, Milan Petakov, Hagit N. Baris, Elena Lukina, Suma P. Shankar, Sebastiaan J.M. Gaemers, Hadhami Ben Turkia, Pramod K. Mistry, Andres Ortega, Sumita Danda, Evgueniy Hadjiev, Regina Tayag, Marwan Ghosn
Publikováno v:
American journal of hematology, vol 92, iss 11
Mistry, PK; Lukina, E; Ben Turkia, H; Shankar, SP; Baris, H; Ghosn, M; et al.(2017). Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial. American Journal of Hematology, 92(11), 1170-1176. doi: 10.1002/ajh.24877. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/3vt8j9ht
American Journal of Hematology
Mistry, PK; Lukina, E; Ben Turkia, H; Shankar, SP; Baris, H; Ghosn, M; et al.(2017). Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial. American Journal of Hematology, 92(11), 1170-1176. doi: 10.1002/ajh.24877. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/3vt8j9ht
American Journal of Hematology
© 2017 The Authors American Journal of Hematology Published by Wiley Periodicals, Inc. Eliglustat, an oral substrate reduction therapy, is a first-line treatment for adults with Gaucher disease type 1 (GD1) who are poor, intermediate, or extensive C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1091112858d13d4efae1ef53bf3f518
https://escholarship.org/uc/item/3vt8j9ht
https://escholarship.org/uc/item/3vt8j9ht