Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA (Q27683714)

6

object named as

George M Sheldrick

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author name string

Navdeep S Sidhu

1

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Kathrin Schreiber

2

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Kevin Pröpper

3

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Stefan Becker

4

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Jutta Gärtner

7

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Ralph Krätzner

8

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Robert Steinfeld

Acta Crystallographica Section D: Biological Crystallography

9

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publication date

May 2014

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published in

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volume

70

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issue

Pt 5

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page(s)

1321-35

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cites work

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12 December 2020

Cumulative incidence rates of the mucopolysaccharidoses in Germany

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Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA

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Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome

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Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

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Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)

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Gene symbol: SGSH. Disease: Sanfilippo syndrome type A

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Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis

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Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome

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