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Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum

Michael J Eblan1, Ozlem Goker-Alpan, Ellen Sidransky

  • 1Section on Molecular Neurogenetics, National Institute of Mental Health and Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

Fetal and Pediatric Pathology
|January 7, 2006
PubMed
Summary

Severe Gaucher disease (GD) presents as a lethal perinatal condition with hydrops and ichthyosis. Early diagnosis is crucial, as this rare lysosomal disorder is often overlooked in newborns.

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