Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Suresh, Vijay"'
Autor:
Karen Bean, Simon A. Jones, Anupam Chakrapani, Suresh Vijay, Teresa Wu, Heather Church, Charlotte Chanson, Andrew Olaye, Beckley Miller, Ivar Jensen, Francis Pang
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 3, p 45 (2024)
Metachromatic leukodystrophy (MLD) is a fatal inherited lysosomal storage disease that can be detected through newborn bloodspot screening. The feasibility of the screening assay and the clinical rationale for screening for MLD have been previously d
Externí odkaz:
https://doaj.org/article/5bf65783a81c4dc888f04b8d8b385d27
Autor:
Srividya Sreekantam, Laura Smith, Catherine Stewart, Shauna Kearney, Sarah Lawson, Julian Raiman, Suresh Vijay, Saikat Santra
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100881- (2022)
Hunter syndrome is a neurodegenerative lysosomal storage disorder with limited treatment options to halt the progressive neurocognitive decline. Whilst Intravenous enzyme replacement therapy (ERT) does not cross the blood brain barrier; Intrathecal E
Externí odkaz:
https://doaj.org/article/9e1e1d9d93894a859ec864c1ba93296c
Autor:
Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar, Simon A. Jones
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Abstract Background If symptomatic in infants, the autosomal recessive disease lysosomal acid lipase deficiency (LAL-D; sometimes called Wolman disease or LAL-D/Wolman phenotype) is characterized by complete loss of LAL enzyme activity. This very rar
Externí odkaz:
https://doaj.org/article/6bcf5e77cf6c40ca9598c34a2bcd98d2
Autor:
Srividya Sreekantam, Hina Rizvi, Rachel Brown, Saikat Santra, Julian Raiman, Suresh Vijay, Patrick J. Mckiernan, Girish L. Gupte
Publikováno v:
JIMD Reports, Vol 54, Iss 1, Pp 22-24 (2020)
Abstract Our subject presented at 11 months of age, following a varicella zoster infection, with acute on chronic liver disease and was found to have raised serum chitotriosidase. White cell enzyme analysis for Gaucher, Niemann Pick A, B and lysosoma
Externí odkaz:
https://doaj.org/article/40ef5ed4372346a48346a91859002cc0
Autor:
Michelle F. Huffaker, Anne Y. Liu, Gregory M. Enns, Suresh Vijay, Antonio J. Amor, N. Franklin Adkinson Jr
Publikováno v:
JIMD Reports, Vol 49, Iss 1, Pp 30-36 (2019)
Abstract Allergic immune‐mediated hypersensitivity reactions are known potential complications of enzyme replacement therapy. Sebelipase alfa, recombinant lysosomal acid lipase (LAL), is a potentially life‐altering treatment for patients with LAL
Externí odkaz:
https://doaj.org/article/125628128ec746fc87d513943caf75e0
Publikováno v:
American Journal of Medical Genetics Part A. 191:859-863
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a8577167968f22ba6b8edad0a9006343
https://doi.org/10.1002/ajmg.a.63083
https://doi.org/10.1002/ajmg.a.63083
Autor:
Luca Dello Strologo, Marco Spada, Carlo Dionisi Vici, Marta Ciofi Degli Atti, Michelle Rheault, Anna Kristina Bjerre, Olivia Boyer, Pier Luigi Calvo, Lorenzo D'Antiga, Lyndsay A. Harshman, Friederike Hörster, Stefan Kölker, Timo Jahnukainen, Noël Knops, Pauline Krug, Kai Krupka, Angela Lee, Elena Levtchenko, Stephen D. Marks, Jelena Stojanovic, Laura Martelli, George Mazariegos, Giovanni Montini, Mohan Shenoy, Sangeet Sidhu, Trine Tangeras, Sara Testa, Suresh Vijay, Katarzyna Wac, Lars Wennberg, Waldo Concepcion, Sven F. Garbade, Burkhard Tönshoff
Publikováno v:
Molecular Genetics and Metabolism. 137:265-272
Methylmalonic acidemia (MMAemia) is characterized by accumulation of methylmalonic acid (MMA) in all body tissues. To minimize disease-related complications, isolated kidney (KTx), liver (LTx) or combined liver-kidney transplantation (LKTx) have been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d499e67ba068dfddffd4b14d7e50ac
https://doi.org/10.1016/j.ymgme.2022.09.010
https://doi.org/10.1016/j.ymgme.2022.09.010
Autor:
Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar, Simon A. Jones
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-2 (2021)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/3dad74864e4047d381940b4297b781e5
Akademický článek
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Autor:
Mary Anne Preece, Meranthi Fernando, Saikat Santra, Suresh Vijay, Rachel M. Brown, Astor Rodrigues, Girish Gupte
Publikováno v:
Euroasian Journal of Hepato-Gastroenterology
Background Wilson's disease (WD) is a rare disorder of copper toxicosis. Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is even rarer. The coexistence of these two disorders and their clinical implications are not yet reported. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3c51c6a2e747cf18dcfc772f93cd29a
https://doi.org/10.5005/jp-journals-10018-1351
https://doi.org/10.5005/jp-journals-10018-1351