(Q79329142)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14643388%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

title

New GAA mutations in Japanese patients with GSDII (Pompe disease) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14643388%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

author name string

Judy R Pipo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14643388%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Jian-Hua Feng

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14643388%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Toshiyuki Yamamoto

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14643388%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Yuki Ohsaki

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14643388%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Eiji Nanba

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14643388%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Seiichi Tsujino

6

1 reference

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21 December 2019

Norio Sakuragawa

7

1 reference

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21 December 2019

Frank Martiniuk

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14643388%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Haruaki Ninomiya

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14643388%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Akira Oka

10

1 reference

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21 December 2019

Kousaku Ohno

11

1 reference

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21 December 2019

publication date

1 October 2003

1 reference

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21 December 2019

1 reference

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21 December 2019

volume

29

1 reference

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21 December 2019

issue

4

1 reference

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21 December 2019

page(s)

284-287

1 reference

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Glycogenosis type II (acid maltase deficiency)

21 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900267-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900267-4

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%2FS0887-8994%2803%2900267-4

7 January 2021

Characterization of the human lysosomal alpha-glucosidase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900267-4

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%2FS0887-8994%2803%2900267-4

7 January 2021

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900267-4

7 January 2021

Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900267-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900267-4

7 January 2021

A family with pseudodeficiency of acid alpha-glucosidase

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900267-4

7 January 2021

Frequent mutations in Japanese patients with acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900267-4

7 January 2021

Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900267-4

7 January 2021

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%2FS0887-8994%2803%2900267-4

7 January 2021

10.1016/S0887-8994(03)00267-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14643388%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference