(Q51030270)

English

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

scientific article published in March 2004

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

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

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

author name string

Anna Lisa E Montalvo

1

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

Roberta Cariati

2

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

Marta Deganuto

3

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

Veronica Guerci

4

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

Rodolfo Garcia

5

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

Giovanni Ciana

6

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

Bruno Bembi

7

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

Maria Gabriela Pittis

8

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

publication date

1 March 2004

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

81

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

3

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

203-208

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

Characterization of the human lysosomal alpha-glucosidase gene

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

7 January 2021

Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

7 January 2021

Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

7 January 2021

Identification of two subtypes of infantile acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

7 January 2021

Childhood acid maltase deficiency. A clinical, biochemical, and morphologic study of three patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

7 January 2021

Comparative study of acid maltase deficiency. Biochemical differences between infantile, childhood, and adult types

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

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

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

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/10.1016%2FJ.YMGME.2003.11.011

7 January 2021

A rare presentation of Pompe disease with massive hypertrophic cardiomyopathy at birth.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

7 January 2021

Bradycardia in a case of type II glycogenosis (Pompe's disease) revealing in early neonatal period

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

7 January 2021

Structural cardiovascular abnormalities presenting as persistent pulmonary hypertension of the newborn

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

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

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

7 January 2021

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

7 January 2021

Evidence for a founder effect in Sicilian patients with glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.011

7 January 2021

Identifiers

10.1016/J.YMGME.2003.11.011

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/14972326

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