Article

Gaucher Disease in Fetus: The Usual and the Unusual Presentations in a Family

2019-09-01

Abstract excerpt

Abstract Gaucher disease is the most common of the lysosomal storage disorders, with a continuum of clinical features ranging from a perinatal lethal form to an asymptomatic form. Perinatal lethal Gaucher disease (PLGD), also known as fetal Gaucher disease is a distinct, severe form of type II Gaucher disease and typically presents as non- immune hydrops fetalis, hepatosplenomegaly and ichthyosiform abnormalities...

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Literature Corpus work: 32bcca5c-835a-530b-92de-bbe0d7e37139
DOI: 10.1007/s40556-019-00216-8

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