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Clinical Pediatrics
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Diagnosing Gaucher Disease

Early Recognition, Implications for Treatment, and Genetic Counseling

Ellen Sidransky

Section on Molecular Neurogenetics, Clinical Neuroscience Branch, National Institute of Mental Health, Bethesda, Maryland

Nahid Tayebi

Section on Molecular Neurogenetics, Clinical Neuroscience Branch, National Institute of Mental Health, Bethesda, Maryland

Edward I. Ginns

Section on Molecular Neurogenetics, Clinical Neuroscience Branch, National Institute of Mental Health, Bethesda, Maryland

The diagnosis of Gaucher disease, the inherited deficiency of glucocerebrosidase and the most common inherited disorder of Ashkenazi Jews, can often be missed by clinicians. Medical records from patients with Gaucher disease were reviewed, revealing a wide range of initial misdiagnoses and the frequent use of unnecessary invasive diagnostic procedures. The diagnosis of Gaucher disease is readily established by enzymatic or DNA analyses in conjuction with a thorough history and physical examination. Consequently, greater awareness of the symptoms encountered in these patients could alleviate unnecessary anxiety, testing, and confusion. A definitive diagnosis of Gaucher disease has important implications for genetic counseling and treatment.

Clinical Pediatrics, Vol. 34, No. 7, 365-371 (1995)
DOI: 10.1177/000992289503400705
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