Concepedia

Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical and immunological study

W. Schlote, K. Harzer, H. Christomanou, Barbara C. Paton, B. Kustermann‐Kuhn, Benjamin Schmid, Johannes Seeger, U. Beudt, Isaiah P. Schuster, U. Langenbeck

European Journal of Pediatrics · 1991 · 65 citations · 32 references

References

32

The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

Life Sciences, Genetics, Molecular Genetics +13

The assay of arylsulphatases A and B in human urine

H. Baum, K. S. Dodgson, B. Spencer · Clinica Chimica Acta · 1959 · 627 citations

Life Sciences, Biochemistry, Enzymology +9

AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2.

Ernst Conzelmann, Konrad Sandhoff · Proceedings of the National Academy of Sciences · 1978 · 276 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15

Coding of Two Sphingolipid Activator Proteins (SAP-1 and SAP-2) by Same Genetic Locus

John S. O’Brien, Keith A. Kretz, Nazneen N. Dewji et al. · Science · 1988 · 250 citations

Life Sciences, Genetics, Molecular Biology +11

Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A.

Hans‐Joachim Kytzia, Konrad Sandhoff · Journal of Biological Chemistry · 1985 · 221 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15