(Q62723395)

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

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18458862%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18458862%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

glycogen storage disease

1 reference

based on heuristic

inferred from title

4

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Europe PubMed Central

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6 January 2020

5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18458862%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

author name string

L Wan

1

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Europe PubMed Central

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6 January 2020

C-C Lee

2

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18458862%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

C-M Hsu

3

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18458862%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

C-H Tsai

6

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18458862%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

F-J Tsai

7

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Europe PubMed Central

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6 January 2020

publication date

6 May 2008

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Europe PubMed Central

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6 January 2020

Journal of Neurology

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18458862%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

255

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18458862%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

6

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18458862%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

831-838

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Europe PubMed Central

PubMed publication ID

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6 January 2020

https://scigraph.springernature.com/pub.10.1007/s00415-008-0714-0

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pompe's disease in Chinese and prenatal diagnosis by determination of alpha-glucosidase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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).

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular study on the infantile form of Pompe disease in Chinese in Taiwan

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Statistical features of human exons and their flanking regions

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic study of Pompe disease in Chinese patients in Taiwan

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the human lysosomal alpha-glucosidase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Point mutation in Pompe disease in Chinese

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanistic and structural analysis of a family 31 alpha-glycosidase and its glycosyl-enzyme intermediate.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splicing in action: assessing disease causing sequence changes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18458862

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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