(Q43818937)

English

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).

scientific article published in February 2002

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease). (English)

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

glycogen storage disease

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inferred from title

Susana Teijeira

object named as

Susana Teijeira

7

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Kwame Anyane-Yeboa

object named as

Kwame Anyane-Yeboa

8

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author name string

Roberto Fernandez-Hojas

1

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27 November 2017

Maryann L Huie

2

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Europe PubMed Central

PubMed publication ID

27 November 2017

Carmen Navarro

3

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Europe PubMed Central

PubMed publication ID

27 November 2017

Carmen Dominguez

4

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Europe PubMed Central

PubMed publication ID

27 November 2017

Manuel Roig

5

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Europe PubMed Central

PubMed publication ID

27 November 2017

Diana Lopez-Coronas

6

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27 November 2017

Rochelle Hirschhorn

9

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27 November 2017

language of work or name

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publication date

1 February 2002

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Europe PubMed Central

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27 November 2017

Neuromuscular Disorders

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27 November 2017

12

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27 November 2017

2

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27 November 2017

159-166

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27 November 2017

Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Glycogenosis type II (acid maltase deficiency)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic defects in patients with glycogenosis type II (acid maltase deficiency)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletion of exon 18 is a frequent mutation in glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

The African origin of the common mutation in African American patients with glycogen-storage disease type II.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

White blood cells and the diagnosis of alpha-glucosidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Late-onset acid maltase deficiency. Biochemical studies of leukocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900247-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(01)00247-4

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

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