(Q73387171)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153910%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153910%20AND%20SRC:MED&resulttype=core&format=json

Guglielmo Rosario Domenico Villani

3 November 2019

author

2

1 reference

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3 November 2019

author name string

A Tessitore

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153910%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

C Di Domenico

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153910%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M Filocamo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153910%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

R Gatti

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153910%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

P Di Natale

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153910%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

publication date

1 December 2000

1 reference

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3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153910%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

107

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153910%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153910%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

568-576

1 reference

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https://scigraph.springernature.com/pub.10.1007/s004390000429

3 November 2019

exact match

0 references

cites work

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4-Methylumbelliferyl 2-acetamido-2-deoxy-α-d-glucopyranoside, a fluorogenic substrate for N-acetyl-α-D-glucos-aminidase

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12 December 2020

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Modification of a PCR-based site-directed mutagenesis method

1 reference

12 December 2020

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

1 reference

12 December 2020

'Cold SSCP': a simple, rapid and non-radioactive method for optimized single-strand conformation polymorphism analyses

1 reference

12 December 2020

NAGLU mutations underlying Sanfilippo syndrome type B.

1 reference

12 December 2020

Biosynthesis and maturation of alpha-N-acetylglucosaminidase in normal and Sanfilippo B-fibroblasts

1 reference

12 December 2020

Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients

1 reference

12 December 2020

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes

1 reference

12 December 2020

Biosynthesis of alpha-N-acetylglucosaminidase in cultured human kidney carcinoma cells

1 reference

12 December 2020

Sanfilippo B syndrome (MPS III B): altered residual alpha-N-acetylglucosaminidase activity in an unusual sibship

1 reference

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Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene

1 reference

12 December 2020

Follow-up on seven adult patients with mild Sanfilippo B-disease

1 reference

12 December 2020

Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)

1 reference

12 December 2020

Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia

1 reference

12 December 2020

Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship

1 reference

12 December 2020

The molecular basis of Sanfilippo syndrome type B

1 reference

12 December 2020

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

1 reference

12 December 2020

Sanfilippo B disease: a re-examination of a particular sibship after 12 years

1 reference

12 December 2020

Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.

1 reference

12 December 2020

Protein measurement with the Folin phenol reagent

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12 December 2020