Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency.

Rafi MA, de Gala G, Zhang XL, Wenger DA

Correction of sulfatide metabolism after transfer of prosaposin cDNA to cultured cells from a patient with SAP-1 deficiency.

Rafi MA, Amini S, Zhang XL, Wenger DA

The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy.

Zhang XL, Rafi MA, DeGala G, Wenger DA

Leukocyte sonicates as a source for both enzyme assay and DNA amplification for mutational analysis of certain lysosomal disorders.

Louie E, Rafi MA, Wenger DA

Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.

Zhang XL, Rafi MA, DeGala G, Wenger DA

Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.

Rafi MA, Zhang XL, DeGala G, Wenger DA