{
    "PMID": "10679038",
    "TI": "Novel point mutation (W184R) in neonatal type 2 Gaucher disease.",
    "JT": "Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society",
    "BTI": "",
    "DP": "2000",
    "AU": "Choy F Y, Wong K, Vallance H D, Baldwin V"
}