Zobrazeno 1 - 10
of 205
pro vyhledávání: '"lysosomal disorders"'
Publikováno v:
Therapeutics and Clinical Risk Management, Vol Volume 18, Pp 1143-1155 (2022)
Fabiano de Oliveira Poswar,1– 4 Johanna Henriques Nehm,1 Francyne Kubaski,5 Edina Poletto,6 Roberto Giugliani1– 4,7– 9 1Clinical Research Group in Medical Genetics, Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre,
Externí odkaz:
https://doaj.org/article/13d9067cc0774204885606dd2625edaf
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 475-483 (2022)
Abstract Mucopolysaccharidoses (MPSs) are a group of genetic alterations whose effect is the progressive intralysosomal accumulation of glycosaminoglycans. Affected individuals are deficient in one or more lysosomal enzymes which, depending on the MP
Externí odkaz:
https://doaj.org/article/3b560e6456354b84a10103c99b5cabd5
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2022)
Abstract Mucopolysaccharidoses (MPS) are rare inborn errors of metabolism, leading to the accumulation of glycosaminoglycans (GAG) in distinct tissues. We investigated oropharyngeal dysphagia using the videofluoroscopic swallowing study (VFSS) in pat
Externí odkaz:
https://doaj.org/article/507003631b944d79a3b7c1540e1b7db6
Autor:
Fernanda Medeiros Sebastião, Kristiane Michelin-Tirelli, Fernanda Bender, Franciele Fátima Lopes, Inamara Moraes, Francyne Kubaski, Roberto Giugliani, Maira Burin
Publikováno v:
Genetics and Molecular Biology, Vol 45, Iss 1 (2021)
Abstract The COVID-19 pandemic led to the reorganization of health care in several countries, including Brazil. Inborn Errors of Metabolism (IEM) are a group of rare and difficult to diagnose genetic diseases caused by pathogenic variants in genes th
Externí odkaz:
https://doaj.org/article/665ffbb72da64833b33fb1f99a7fb7fb
Autor:
Schiffmann, Raphael
Publikováno v:
In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition Edition: Seventh Edition. 2025:547-558
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract The mucopolysaccharidoses (MPS) are a relatively uncommon group of inherited metabolic disorders. MPSs should be suspected in a child with coarse facies, organomegaly, recurrent respiratory tract infections, developmental delay, and hernias.
Externí odkaz:
https://doaj.org/article/6a8e37d5c3764d52a557d9a9278d4f19
Autor:
Yuri Battaglia, Fulvio Fiorini, Cristiano Azzini, Pasquale Esposito, Alessandro De vito, Antonio Granata, Alda Storari, Renzo Mignani
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
Fabry Disease (FD), a rare and progressive, X-linked lysosomal storage disorder, is caused by mutations in the α-galactosidase A (GLA) gene which leads to enzymatic deficiency of GLA. Misdiagnosed and undiagnosed FD cases are common for the variable
Externí odkaz:
https://doaj.org/article/cf6af168a81548e597a29e5fd7a3de5b
Akademický článek
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Publikováno v:
Philosophical Transactions: Biological Sciences, 2003 May . 358(1433), 927-945.
Externí odkaz:
https://www.jstor.org/stable/3558199
Autor:
Filippo Pinto Vairo, Nicole J. Boczek, Margot A. Cousin, Charu Kaiwar, Patrick R. Blackburn, Erin Conboy, Brendan C. Lanpher, Ralitza H. Gavrilova, Pavel N. Pichurin, Konstantinos N. Lazaridis, Dusica Babovic-Vuksanovic, Eric W. Klee
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 46-51 (2017)
Lysosomal diseases (LD) comprise a group of approximately 60 hereditary conditions caused by progressive accumulation of metabolites due to defects in lysosomal enzymes and degradation pathways, which lead to a wide range of clinical manifestations.
Externí odkaz:
https://doaj.org/article/d26ea23ea17a48b6a33115ca1f65c5e9