(Q80099730)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16904924%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Molecular analysis in two beta-mannosidosis patients: description of a new adult case (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16904924%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

Laura Gort

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16904924%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Joana Duque

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16904924%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

José M Fabeiro

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16904924%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Ander Zulaica

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16904924%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Maria Josep Coll

5

1 reference

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28 December 2019

Amparo Chabás

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16904924%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

publication date

14 August 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16904924%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

28 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16904924%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

volume

89

1 reference

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28 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16904924%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

page(s)

398-400

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16904924%20AND%20SRC:MED&resulttype=core&format=json

Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation

28 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.001

Beta-mannosidae deficiency in two mentally retarded girls with intractable seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.001

Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.001

Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.001

Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.001

Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.07.001

10.1016/J.YMGME.2006.07.001

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16904924%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference