article_metadata: Maxime Agranier Florence Demurger Christele Dubourg Jerome Fromageot Anne-Sophie Cabaret Dufour Erika Launay Magalie Gournay Charles Lefèvre Roseline Froissart Magali Pettazzoni Paul Rollier
article_metadata: 10.1186/s12884-024-07115-5
article_metadata: BMC Pregnancy Childbirth
article_metadata: 2025 Jan 3;25(1):3.
article_metadata: idua gene exome sequencing hepatosplenomegaly lysosomal storage diseases mucopolysaccharidosis i prenatal diagnosis
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39754079/
article_metadata: Hepatomegaly / diagnostic imaging Hepatomegaly / etiology Mucopolysaccharidosis I / diagnosis Mucopolysaccharidosis I / genetics Splenomegaly / diagnostic imaging Splenomegaly / etiology Ultrasonography, Prenatal
article_metadata: Hepatomegaly / diagnostic imaging Hepatomegaly / etiology Mucopolysaccharidosis I / diagnosis Mucopolysaccharidosis I / genetics Splenomegaly / diagnostic imaging Splenomegaly / etiology Ultrasonography, Prenatal Case Reports Adult Amniocentesis Exome Sequencing Female Humans Iduronidase / genetics Pregnancy Prenatal Diagnosis / methods Iduronidase
article_metadata: PMC11697674
article_metadata: 39754079
article_metadata: Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report
article_metadata: 2025