Sanfilippo type D disease: Clinical findings in two patients with a new variant of mucopolysaccharidosis III
- 1 March 1982
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 138 (2) , 168-171
- https://doi.org/10.1007/bf00441147
Abstract
No abstract availableKeywords
This publication has 15 references indexed in Scilit:
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- N -Acetylglucosamine-6-Sulfate Sulfatase Deficiency ReconsideredScience, 1980
- Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.Proceedings of the National Academy of Sciences, 1978
- N-Acetylglucosamine-6-Sulfate Sulfatase in Man: Deficiency of the Enzyme in a New MucopolysaccharidosisPediatric Research, 1978
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- Sanfilippo A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LIVERJournal of Clinical Investigation, 1974
- Sanfilippo Syndrome: Profound Deficiency of Alpha-Acetylglucosaminidase Activity in Organs and Skin Fibroblasts from Type-B PatientsProceedings of the National Academy of Sciences, 1972
- The Sanfilippo B corrective factor: A N-acetyl-α-D-glucosaminidaseBiochemical and Biophysical Research Communications, 1972
- [121] Corrective factors for inborn errors of mucopolysaccharide metabolismPublished by Elsevier ,1972