Search Results - "Rizowy, Gustavo Mottin"

In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts by Sperb-Ludwig, Fernanda, Ludwig, Nataniel Floriano, Rizowy, Gustavo Mottin, Velho, Renata Voltolini, Schwartz, Ida Vanessa Doederlein

“…Mucolipidosis II and III (MLII and MLIII) are autosomal recessive diseases caused by pathogenic variants in GNPTAB and GNPTG genes that lead to defects in…”
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Hepcidin, Interleukin-6 Levels and Iron Metabolism Parameters in Patients with Hepatic Glycogen Storage Diseases: A Cross-Sectional Study by Nalin, Tatiéle, Sperb-Ludwig, Fernanda, Siebert, Marina, Rizowy, Gustavo Mottin, Weinstein, David A., Derks, Terry G. J., Souza, Carolina F. M. de, Schwartz, Ida V. D.

“…Abstract Hepatic glycogen storage diseases (GSD) are characterized by recurrent episodes of hypoglycemia, and anemia has been recognized as a frequent…”
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Is the gut microbiota dysbiotic in patients with classical homocystinuria? by Rizowy, Gustavo Mottin, Poloni, Soraia, Colonetti, Karina, Donis, Karina Carvalho, Dobbler, Priscila Thiago, Leistner-Segal, Sandra, Roesch, Luiz Fernando Wurdig, Schwartz, Ida Vanessa Doederlein

“…Classical homocystinuria (HCU) is characterized by increased plasma levels of total homocysteine (tHcy) and methionine (Met). Treatment may involve…”
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