Seymour Packman
Overview
Explore the profile of Seymour Packman including associated specialties, affiliations and a list of published articles.
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31
Citations
1447
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Recent Articles
1.
Mistry P, Lukina E, Ben Turkia H, Shankar S, Feldman H, Ghosn M, et al.
Am J Hematol
. 2021 Jun;
96(9):1156-1165.
PMID: 34161616
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...
2.
Mistry P, Balwani M, Barbouth D, Burrow T, Ginns E, Goker-Alpan O, et al.
Mol Genet Metab
. 2020 May;
130(3):164-169.
PMID: 32471800
No abstract available.
3.
Alioto A, Gomez R, Moses J, Paternostro J, Packman S, Packman W
Am J Med Genet A
. 2020 Mar;
182(5):1130-1142.
PMID: 32125090
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...
4.
Kazi Z, Desai A, Troxler R, Kronn D, Packman S, Sabbadini M, et al.
Genet Med
. 2018 Sep;
21(4):887-895.
PMID: 30214072
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 Pompe disease (IOPD) patients. Methods:...
5.
Sanchez L, Oatts J, Duncan J, Packman S, Moore A
Am J Ophthalmol Case Rep
. 2018 Mar;
4:83-86.
PMID: 29503934
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 coarse facial features, poor verbal skills,...
6.
Cassiman D, Packman S, Bembi B, Ben Turkia H, Al-Sayed M, Schiff M, et al.
Mol Genet Metab
. 2017 Nov;
125(4):360.
PMID: 29129654
No abstract available.
7.
Mistry P, Lukina E, Ben Turkia H, Shankar S, Baris H, Ghosn M, et al.
Am J Hematol
. 2017 Aug;
92(11):1170-1176.
PMID: 28762527
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 CYP2D6 metabolizers (>90% of patients). In...
8.
Germain D, Hughes D, Nicholls K, Bichet D, Giugliani R, Wilcox W, et al.
N Engl J Med
. 2016 Aug;
375(6):545-55.
PMID: 27509102
Background: Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic chaperone, stabilizes specific mutant forms of α-galactosidase, increasing enzyme...
9.
Cassiman D, Packman S, Bembi B, Ben Turkia H, Al-Sayed M, Schiff M, et al.
Mol Genet Metab
. 2016 May;
118(3):206-213.
PMID: 27198631
Background: Acid sphingomyelinase deficiency (ASMD), [Niemann-Pick Disease Types A and B (NPD A and B)], is an inherited metabolic disorder resulting from deficiency of the lysosomal enzyme acid sphingomyelinase. Accumulation...
10.
Germain D, Charrow J, Desnick R, Guffon N, Kempf J, Lachmann R, et al.
J Med Genet
. 2015 Mar;
52(5):353-8.
PMID: 25795794
Background: Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We assessed the 10-year outcome of recombinant α-galactosidase A...