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Publikováno v:
Pediatrics. 151
Marfan syndrome is a pleiotropic genetic connective tissue disorder most commonly involving the cardiovascular, skeletal, and ocular systems, which have abundant connective tissue. It is not known to affect the central nervous system, therefore devel
Autor:
Luca Fierro, Manisha Balwani, Praveena Narayanan, Nora Nesheiwat, Pramod K. Mistry, Hetanshi Naik
Publikováno v:
Molecular Genetics and Metabolism
SARS-CoV-2 infection carries high morbidity and mortality in individuals with chronic disorders. Its impact in rare disease populations such as Gaucher disease (GD) is unknown. In GD, decreased acid β-glucosidase activity leads to the accumulation o
Publikováno v:
Molecular Genetics and Metabolism. 132:S51