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Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease

Biochemical and Biophysical Research Communications · 1965 · Vol. 18(2) · pp. 221–225

Roscoe O. Brady✉(National Institutes of Health)Julian N. Kanfer(National Institute of Neurological Disorders and Stroke)David J. Shapiro(National Institute of Neurological Disorders and Stroke)

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Lysosomal Storage Disorders Research Glycosylation and Glycoproteins Research Cellular transport and secretionBiobankGenotypeMedicineDiseaseSNPSingle-nucleotide polymorphismPopulationInternal medicineBioinformaticsGenetics

MeSH terms

AnemiaAnemia, Hemolytic, CongenitalCerebrosidesEnzymesGaucher DiseaseGlucosylceramidesHumansMetabolic DiseasesMetabolismPurpuraPurpura, ThrombocytopenicSpherocytosis, HereditarySpleen

Citations

803

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18.17

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100%

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Cited by

Gaucher disease: A case study

International Journal of Clinical and Diagnostic Pathology · 2021 · 0 citations

References

A SIMPLE METHOD FOR THE ISOLATION AND PURIFICATION OF TOTAL LIPIDES FROM ANIMAL TISSUES

Journal of Biological Chemistry · 1957 · 64,580 citations

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