S. L. Goldenfum

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The allele for pseudodeficiency (PD) of the lysosomal enzyme arylsulfatase A (ARSA) is a common polymorphism in all populations. The PD allele frequency in different Israeli ethnic groups was found to range from 9.2-22.7%. The PD allele includes two different mutations PD(1) and PD(2) in an approximately 1 Kb interval. In this study we confirmed that while(More)
Inborn errors of metabolism (IEM) are a heterogeneous group of more than 300 genetic defects related to the synthesis, metabolism, transport and storage of biochemical compounds. The large number of specific biochemical techniques required for their detection and diagnosis and the rarity of each disorder makes advisable the creation of regional reference(More)
After 12 weeks of strict diet there was a significant regression of white matter changes, as reported earlier in two adolescents (Bick et al 1993). Two patients with untreated PKU and comparable phe levels did not present abnormalities in MRI and were clinically mildly affected. Though precise phe concentrations over time are unknown, our results indicate(More)
Lysosomal storage diseases (LSD) are a group of more than 40 disorders, many of them with overlapping phenotype, in which clinical diagnosis is often difficult. Definitive diagnosis is based on enzyme assays, a large number of such assays usually being necessary during the investigation of each patient. In addition, there will frequently be a need for(More)
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