(Q51874261)

15 April 2018

title

New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression. (English)

1 reference

15 April 2018

1 reference

6

Roberto Giugliani

1 reference

15 April 2018

Ursula Matte

5

object named as

Ursula Matte

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15 April 2018

author name string

Fabiana Quoos Mayer

1

1 reference

15 April 2018

Fernanda dos Santos Pereira

2

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15 April 2018

Anthony H Fensom

3

1 reference

15 April 2018

Christina Slade

4

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15 April 2018

publication date

16 December 2008

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15 April 2018

Molecular Genetics and Metabolism

published in

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15 April 2018

volume

96

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15 April 2018

issue

3

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15 April 2018

page(s)

148

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15 April 2018

Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.11.159

Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.11.159

Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.11.159

Progressive mental regression in siblings with Morquio disease type B (mucopolysaccharidosis IV B).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.11.159

Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.11.159

10.1016/J.YMGME.2008.11.159

7 January 2021

Identifiers

DOI

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15 April 2018

PubMed ID

19091613

1 reference

15 April 2018