(Q41856905)

13 October 2017

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease (English)

1 reference

13 October 2017

Paul Laissue

9

0 references

author name string

Mónica Yasmín Niño

1

1 reference

13 October 2017

Heidi Eliana Mateus

2

1 reference

13 October 2017

Dora Janeth Fonseca

3

1 reference

13 October 2017

Marian A Kroos

4

1 reference

13 October 2017

Sandra Yaneth Ospina

5

1 reference

13 October 2017

Juan Fernando Mejía

6

1 reference

13 October 2017

Jesús Alfredo Uribe

7

1 reference

13 October 2017

Arnold J J Reuser

8

1 reference

13 October 2017

19 April 2012

1 reference

Journal of Inherited Metabolic Disorders Reports

13 October 2017

1 reference

13 October 2017

7

1 reference

13 October 2017

39-48

1 reference

A randomized study of alglucosidase alfa in late-onset Pompe's disease

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

Delayed or late-onset type II glycogenosis with globular inclusions.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy

2 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575054

Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online

2 December 2018

1 reference

12 December 2020

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

12 December 2020

Molecular genetic study of Pompe disease in Chinese patients in Taiwan

1 reference

12 December 2020

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype

1 reference

12 December 2020

Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations

1 reference

12 December 2020

Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

1 reference

12 December 2020

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations

1 reference

12 December 2020

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/8904_2012_138

1 reference

13 October 2017

1 reference

13 October 2017

PubMed publication ID

23430493

1 reference