Margaret M McGovern
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Explore the profile of Margaret M McGovern including associated specialties, affiliations and a list of published articles.
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38
Citations
979
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Recent Articles
1.
Eliscu A, Jamilkowski J, Gonzalez A, Higham J, Kenny L, McGovern M
Community Ment Health J
. 2023 Feb;
59(5):855-868.
PMID: 36780090
LGBTQ+ individuals experience health care disparities and difficulty accessing affirming care. Little is known regarding the health and experiences among subpopulations of specific sexual orientations and gender identities (SOGI). We...
2.
McGovern M, Wasserstein M, Bembi B, Giugliani R, Mengel K, Vanier M, et al.
Orphanet J Rare Dis
. 2021 May;
16(1):212.
PMID: 33971920
Background: Acid sphingomyelinase deficiency (ASMD) (also known as Niemann-Pick disease types A and B) is a rare and debilitating lysosomal storage disorder. This prospective, multi-center, multinational longitudinal study aimed to...
3.
Cox G, Clarke L, Giugliani R, McGovern M
JIMD Rep
. 2018 Jul;
41:119-129.
PMID: 29995201
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease caused by the deficiency of the enzyme acid sphingomyelinase (ASM) resulting in accumulation of sphingomyelin in...
4.
McGovern M, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, et al.
Genet Med
. 2017 Apr;
19(9):967-974.
PMID: 28406489
Background: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in progressive...
5.
McGovern M, Avetisyan R, Sanson B, Lidove O
Orphanet J Rare Dis
. 2017 Feb;
12(1):41.
PMID: 28228103
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types...
6.
McGovern M, Wasserstein M, Kirmse B, Duvall W, Schiano T, Thurberg B, et al.
Genet Med
. 2015 Apr;
18(1):34-40.
PMID: 25834946
Purpose: Enzyme replacement therapy with olipudase alfa (recombinant human acid sphingomyelinase) is being developed for Niemann-Pick disease type B (NPD B). Methods: A single-center, open-label, nonrandomized, single-ascending-dose trial evaluated the...
7.
Chuang W, Pacheco J, Cooper S, McGovern M, Cox G, Keutzer J, et al.
Mol Genet Metab
. 2014 Jan;
111(2):209-11.
PMID: 24418695
Niemann-Pick disease type B (NPD-B) is caused by a partial deficiency of acid sphingomyelinase activity and results in the accumulation of lysosomal sphingomyelin (SPM) predominantly in macrophages. Notably, SPM is...
8.
McGovern M, Lippa N, Bagiella E, Schuchman E, Desnick R, Wasserstein M
Genet Med
. 2013 Feb;
15(8):618-23.
PMID: 23412609
Purpose: The purpose of this study was to perform a systematic evaluation of morbidity and mortality in type B Niemann-Pick disease. Methods: A total of 103 patients with Niemann-Pick disease...
9.
Wasserstein M, Godbold J, McGovern M
J Inherit Metab Dis
. 2012 Jun;
36(1):123-7.
PMID: 22718274
Introduction: Niemann-Pick disease (NPD) due to acid sphingomyelinase deficiency is a lipid storage disease resulting from the accumulation of sphingomyelin, predominantly within cells of the monocyte-macrophage system. In contrast to...
10.
Thurberg B, Wasserstein M, Schiano T, OBrien F, Richards S, Cox G, et al.
Am J Surg Pathol
. 2012 May;
36(8):1234-46.
PMID: 22613999
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disorder characterized by the pathologic accumulation of sphingomyelin (SM) in multiple cell types, and occurs most prominently within the liver, spleen, and...