A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease

Maria Schröder, Konrad Sandhoff · FEBS Letters · 1991 · 165 citations

Life Sciences, Genetics, Molecular Genetics +17

Immunochemical Characterization of Two Activator Proteins Stimulating Enzymic Sphingomyelin Degradation in vitro Absence of One of them in a Human Gaucher Disease Variant

Helen Christomanou, Annemarie Aignesberger, Reinhold P. Linke · Biological Chemistry Hoppe-Seyler · 1986 · 156 citations

Life Sciences, Biochemistry, Immunology +11

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

Mohammad A. Rafi, Gregory de Gala, Xun-ling Zhang et al. · Somatic Cell and Molecular Genetics · 1993 · 85 citations

Life Sciences, Genetics, Molecular Genetics +14

Neuronopathic juvenile glucosylceramidosis due to sap -C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant

Teresa Pàmpols, M. Pineda, M. Girós et al. · Acta Neuropathologica · 1999 · 56 citations

Medicine, Neurology, Neuroscience +14