Neonatal Gaucher disease presenting as persistent thrombocytopenia

Philip Roth, Susan Sklower Brooks, Daniel Potaznik, Ruby Cooma, Shashi Sahdev

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

Mutations in the β-glucocerebrosidase gene cause Gaucher disease with the type 1 variant generally presenting later in life with mild disease and type 2 in infancy with severe neuronopathic symtoms. We describe a neonate homozygous for the D409 H mutation with thrombocylopenia, splenomegaly and cholestasis at birth as the major features.

Original languageEnglish (US)
Pages (from-to)356-358
Number of pages3
JournalJournal of Perinatology
Volume25
Issue number5
DOIs
StatePublished - May 2005

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology

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