Medicine · Health Sciences
3h-index114citations6works0.02yr avg
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Research Topics
Lysosomal Storage Disorders Research(3), Biomedical Research and Pathophysiology(2), Folate and B Vitamins Research(1), Glycosylation and Glycoproteins Research(1), Carbohydrate Chemistry and Synthesis(1)
Publications6 total
The beta-glucosidase isozymes and the enzymatic defect in Gaucher disease.
PubMed·1982
Axo-dendritic abnormalities in a case of juvenile neuronal storage disease.
PubMed·1981· 3 cited
Genetic variants of hexosaminidase deficiency.
PubMed·1977
Leukocyte -galactosidase activity in GM 1 -gangliosidosis.
PubMed·1972· 8 cited
Use of dimercaprol or pencillamine in the treatment of cystinosis.
PubMed·1961· 71 cited
Frequent Co-authors
Clayton Be(1), J. Spencer‐Peet(1), Norman Me(1), B D Lake(1), John Campbell McNamara(1), E. Young(1), Ellis Rb(1), Singer Hs(1), Schafer Ia(1), Paula-Barbosa Mm(1), Tavares Ma(1), Silva Ca(1), Sérgio Tadeu L.F. Pereira(1), Elizabeth Hogg(1)