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Sanfilippo A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LIVER

The Sanfilippo A syndrome is an autosomal recessive mucopolysaccharidosis characterized clinically by severe mental retardation and biochemically by storage in tissue and excretion in urine of excessive amounts of heparan sulfate. Since sulfamide groups are present in heparan sulfate, a sulfamidase...

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Hlavní autoři: Matalon, Reuben, Dorfman, Albert
Médium: Artigo
Jazyk:Inglês
Vydáno: 1974
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC301630/
https://ncbi.nlm.nih.gov/pubmed/4214836
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