(Q24300206)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917947%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917947%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

0 references

0 references

Glucosidase alpha, acid

1 reference

GOA release 2020-03-11

diaphragm contraction

1 reference

GOA release 2020-03-11

glycogen storage disease

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917947%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Emanuele Buratti

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917947%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

author name string

A L E Montalvo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917947%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

B Bembi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917947%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

M Donnarumma

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917947%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

M Filocamo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917947%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

G Parenti

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917947%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

M Rossi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917947%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

P De Filippi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917947%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

A Dardis

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917947%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

M Stroppiano

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917947%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

G Ciana

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917947%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

M G Pittis

13

1 reference

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29 December 2019

language of work or name

English

0 references

publication date

1 October 2006

1 reference

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29 December 2019

1 reference

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29 December 2019

volume

27

1 reference

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29 December 2019

issue

10

1 reference

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29 December 2019

page(s)

999-1006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917947%20AND%20SRC:MED&resulttype=core&format=json

Late-onset Pompe disease primarily affects quality of life in physical health domains.

29 December 2019

cites work

1 reference

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Characterization of the human lysosomal alpha-glucosidase gene

21 January 2018

1 reference

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Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells

21 January 2018

1 reference

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Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype

21 January 2018

1 reference

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7 January 2021

Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online

1 reference

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7 January 2021

Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II.

1 reference

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7 January 2021

L-alanine supplementation in late infantile glycogen storage disease type II.

1 reference

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7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

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7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20374

7 January 2021

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20374

7 January 2021

RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons

1 reference

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7 January 2021

Disease severity in children and adults with Pompe disease related to age and disease duration.

1 reference

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7 January 2021

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

1 reference

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7 January 2021

Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.

1 reference

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7 January 2021

The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.

1 reference

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7 January 2021

Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing.

1 reference

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7 January 2021

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20374

7 January 2021

A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

1 reference

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7 January 2021

Glycogen Storage Disease Type II: Identification of Four Novel Missense Mutations (D645N, G648S, R672W, R672Q) and Two Insertions/Deletions in the Acid α-Glucosidase Locus of Patients of Differing Phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20374

7 January 2021

Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease ty

1 reference

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7 January 2021

Pompe disease in infants and children

1 reference

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7 January 2021

Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene

1 reference

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7 January 2021

Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20374

7 January 2021

Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene

1 reference

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7 January 2021

Isolation and Partial Characterization of the Structural Gene for Human Acid Alpha Glucosidase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20374

7 January 2021

Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20374

7 January 2021

Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20374

7 January 2021

New GAA mutations in Japanese patients with GSDII (Pompe disease)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20374

7 January 2021

Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20374

7 January 2021

Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).

1 reference

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7 January 2021

Improved splice site detection in Genie

1 reference

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7 January 2021

Analysis of donor splice sites in different eukaryotic organisms.

1 reference

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7 January 2021

Identification of two subtypes of infantile acid maltase deficiency

1 reference

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7 January 2021

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

1 reference

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7 January 2021

The natural course of non-classic Pompe's disease; a review of 225 published cases

1 reference

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7 January 2021

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

1 reference

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7 January 2021

The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online

1 reference

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7 January 2021

The 1396del A mutation and a missense mutation or a rare polymorphism of the WRN gene detected in a French Werner family with a severe phenotype and a case of an unusual vulvar cancer. Mutations in brief no. 136. Online

1 reference

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20374

2 references

Consolidated OpenCitations Corpus – April 2017

1566012

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917947%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1566012

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

1566012