Seven cases of Pompe disease from Greece (Q79895239)

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26 December 2019

title

Seven cases of Pompe disease from Greece (English)

1 reference

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26 December 2019

1 reference

M Kroos

1

1 reference

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26 December 2019

P Manta

2

1 reference

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26 December 2019

I Mavridou

3

1 reference

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26 December 2019

F Muntoni

4

1 reference

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26 December 2019

D Halley

5

1 reference

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26 December 2019

R Van der Helm

6

1 reference

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26 December 2019

D Zaifeiriou

7

1 reference

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26 December 2019

A Van der Ploeg

8

1 reference

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26 December 2019

A Reuser

9

1 reference

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26 December 2019

H Michelakakis

10

1 reference

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26 December 2019

publication date

1 August 2006

1 reference

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Journal of Inherited Metabolic Disease

26 December 2019

published in

1 reference

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26 December 2019

volume

29

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26 December 2019

issue

4

1 reference

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26 December 2019

page(s)

556-563

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Glycogenosis type II (acid maltase deficiency)

26 December 2019

cites work

1 reference

12 December 2020

A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II).

1 reference

12 December 2020

Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry

1 reference

12 December 2020

A diagnostic protocol for adult-onset glycogen storage disease type II

1 reference

12 December 2020

L-alanine supplementation in late infantile glycogen storage disease type II.

1 reference

12 December 2020

Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally "common" in white populations.

1 reference

12 December 2020

Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes

1 reference

12 December 2020

An investigation of the properties and possible clinical significance of the lysosomal alpha-glucosidase GAA*2 allele

1 reference

12 December 2020

Acid ?-glucosidase: A new polymorphism in man demonstrable by ?affinity? electrophoresis

1 reference

12 December 2020

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

1 reference

12 December 2020

Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Biochemical, immunological, and cell genetic studies in glycogenosis type II

1 reference

12 December 2020

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

1 reference

12 December 2020

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020