(Q71609635)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6807676%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III (English)

1 reference

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19 October 2019

1 reference

R Gatti

1

1 reference

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19 October 2019

C Borrone

2

1 reference

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19 October 2019

P Durand

3

1 reference

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19 October 2019

S De Virgilis

4

1 reference

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19 October 2019

G Sanna

5

1 reference

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19 October 2019

A Cao

6

1 reference

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19 October 2019

K von Figura

7

1 reference

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19 October 2019

H Kresse

8

1 reference

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19 October 2019

E Paschke

9

1 reference

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19 October 2019

publication date

1 March 1982

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6807676%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

19 October 2019

published in

1 reference

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19 October 2019

volume

138

1 reference

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19 October 2019

page(s)

168-171

1 reference

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19 October 2019

issue

2

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00441147

19 October 2019

exact match

0 references

cites work

Sanfilippo A syndrome: sulfamidase deficiency in cultured skin fibroblasts and liver

1 reference

12 December 2020

Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts

1 reference

12 December 2020

The Sanfilippo A corrective factor. Purification and mode of action

1 reference

12 December 2020

Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

1 reference

12 December 2020

N-acetylglucosamine-6-sulfate sulfatase deficiency reconsidered

1 reference

12 December 2020

The sanfilippo B corrective factor: a N-acetyl-alpha-D-glucosamindiase.

1 reference

12 December 2020

Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients

1 reference

12 December 2020

N-Acetylglucosamine-6-Sulfate Sulfatase in Man: Deficiency of the Enzyme in a New Mucopolysaccharidosis

1 reference

12 December 2020

Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation

1 reference

12 December 2020

MORQUIO'S DISEASE. CLINICAL, RADIOLOGICAL AND BIOLOGICAL STUDY

1 reference

12 December 2020

Mucopolysaccharidosis 3 A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes.

1 reference

12 December 2020

Sequential thin layer chromatography of urinary acidic glycosaminglycans

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00441147

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6807676%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference