Maryam Shahinfar

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Galactocerebrosidase (GALC) is responsible for the lysosomal catabolism of certain galactolipids, including galactosylceramide and psychosine. Patients with GALC deficiency have an autosomal recessive disorder known as globoid cell leukodystrophy (GLD) or Krabbe disease. Storage of undegraded glycolipids results in defective myelin and the characteristic(More)
Molecular analysis and clinical updates are provided on a previously reported mother and adult son with Gaucher disease; two other children died with acute neuronopathic (type 2) Gaucher disease. The mother and son have the identical genotype (370/444) but very different clinical manifestations. These findings illustrate the need for additional studies(More)
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