(Q48046644)

English

A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.

scientific article published in August 1997

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Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/9266392

A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II. (English)

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/9266392

1 reference

based on heuristic

inferred from title

glycogen storage disease

1 reference

based on heuristic

inferred from title

glycogen metabolic process

1 reference

based on heuristic

inferred from title

author name string

M A Kroos

1

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/9266392

A E Waitfield

2

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/9266392

M Joosse

3

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/9266392

B Winchester

4

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/9266392

A J Reuser

5

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/9266392

K D MacDermot

6

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/9266392

publication date

1 August 1997

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/9266392

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/9266392

20

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/9266392

4

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/9266392

556-558

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/9266392

https://scigraph.springernature.com/pub.10.1023/a:1005394706622

0 references

Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266392

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/9266392

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1005394706622

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/9266392

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/9266392

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