Zobrazeno 1 - 10 of 12 pro vyhledávání: '"Mugdha Rairikar"'
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Akademický článek
Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy
Autor: Christine I. Ha, Stephanie DeArmey, Heidi Cope, Mugdha Rairikar, Priya S. Kishnani
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 82-84 (2017)
The availability of three enzyme replacement therapy (ERT) drugs and two substrate reduction therapy (SRT) drugs to treat Gaucher disease provides an opportunity to tailor therapies to a patient's specific clinical concerns. However, there is a gap i
Externí odkaz: https://doaj.org/article/5d832db3ef0543209db5ab5c93721420
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5
Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32–13 T > G variant
Autor: Heidi Cope, Lauren A. Bailey, Mrudu Herbert, Mugdha Rairikar, Priya S. Kishnani, Laura E. Case, Stephanie Austin
Publikováno v: Mol Genet Metab
Background Individuals with late-onset Pompe disease (LOPD) and the common c.-32–13 T > G variant are widely thought to have milder, adult-onset disease. This belief, and the consequent low suspicion of clinical involvement in children, has led to
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f213e1501a0647705ecadac112cf8e4
https://doi.org/10.1016/j.ymgme.2018.08.009
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6
Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G 'late-onset' GAA variant
Autor: Zoheb B. Kazi, Mugdha Rairikar, Rachel Gandy, Lauren A. Bailey, Kathryn L. Berrier, Priya S. Kishnani, Julie Coats, Laura E. Case, Ankit K. Desai, Rebecca Quinones
Publikováno v: Molecular Genetics and Metabolism. 122:99-107
Objective Newborn screening (NBS) has led to early diagnosis and early initiation of treatment for infantile onset Pompe Disease (IOPD). However, guidelines for management of late onset Pompe disease (LOPD) via NBS, especially with the IVS c.-32-13T
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fad7dc813a97cd0599391c5027abc1b
https://doi.org/10.1016/j.ymgme.2017.09.008
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7
High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient
Autor: Mugdha Rairikar, Zoheb B. Kazi, Priya S. Kishnani, Ankit K. Desai, Amy S. Rosenberg, Crista Walters
Publikováno v: Molecular Genetics and Metabolism. 122:76-79
Alglucosidase alfa (rhGAA) has altered the course of an otherwise fatal outcome in classic infantile Pompe disease (IPD), which presents with cardiomyopathy and severe musculoskeletal involvement. However, the response to therapy is determined by sev
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af7eb009cc6f74c9995354cfbd84d7f
https://doi.org/10.1016/j.ymgme.2017.05.006
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8
Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy
Autor: Priya S. Kishnani, Mugdha Rairikar, Heidi Cope, Christine I. Ha, Stephanie DeArmey
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 82-84 (2017)
Molecular Genetics and Metabolism Reports
The availability of three enzyme replacement therapy (ERT) drugs and two substrate reduction therapy (SRT) drugs to treat Gaucher disease provides an opportunity to tailor therapies to a patient's specific clinical concerns. However, there is a gap i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18a449de5d5981e611fa6d2402beccee
http://www.sciencedirect.com/science/article/pii/S221442691730085X
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9
Role of continuous glucose monitoring in the management of glycogen storage disorders
Autor: Mugdha Rairikar, Carine A. Halaby, Surekha Pendyal, Robert Benjamin, Mrudu Herbert, Priya S. Kishnani
Publikováno v: Journal of inherited metabolic disease. 41(6)
Management of liver glycogen storage diseases (GSDs) primarily involves maintaining normoglycemia through dietary modifications and regular glucose monitoring. Self-monitoring of blood glucose is typically done 3–6 times per day, and may not suffic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f397e00d2afe218cff12016c9b54860
https://pubmed.ncbi.nlm.nih.gov/29802555
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