GAUCHE DISEASE AND PREGNANCY (CLINICAL CASE)
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Abstract
Gaucher disease is an orphan genetic disorder caused by a mutation in the lysosomal enzyme GBA, leading to metabolic disorders, blood disorders, bone disorders, and central nervous system disorders, as well as hepatosplenomegaly. Timely diagnosis and treatment prevent the development of disabling symptoms, and enzyme replacement therapy is the only effective treatment. We present a clinical case of type I Gaucher disease diagnosed after a full-term delivery. The patient's symptoms improved with therapy, allowing her to plan and successfully carry a pregnancy to term
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