Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report

Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report

Abstract Background Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are u...

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Bibliographic Details
Main Authors: Maxime Agranier, Florence Demurger, Christele Dubourg, Jerome Fromageot, Anne-Sophie Cabaret Dufour, Erika Launay, Magalie Gournay, Charles Lefèvre, Roseline Froissart, Magali Pettazzoni, Paul Rollier
Format: Article
Language:English
Published: BMC 2025-01-01
Series:BMC Pregnancy and Childbirth
Subjects:
Mucopolysaccharidosis I
Prenatal diagnosis
Hepatosplenomegaly
Lysosomal storage diseases
Exome sequencing
IDUA gene
Online Access:https://doi.org/10.1186/s12884-024-07115-5
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