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Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case

Gaucher disease is a disorder of lysosomes caused by a functional defect of the glucocerebrosidase enzyme. The disease is mainly due to mutations in the GBA1 gene, which determines the gradual storage of glucosylceramide substrate in the patient’s macrophages. In this paper, we describe the case of...

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Hlavní autoři: Carmela Zizzo, Irene Ruggeri, Paolo Colomba, Christiano Argano, Daniele Francofonte, Marcomaria Zora, Emanuela Maria Marsana, Giovanni Duro, Salvatore Corrao
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI AG 2022-06-01
Edice:Biology
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On-line přístup:https://www.mdpi.com/2079-7737/11/6/914
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