Molecular diagnosis of German patients with late-onset glycogen storage disease type II (Q81597463)

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10 January 2020

title

Molecular diagnosis of German patients with late-onset glycogen storage disease type II (English)

1 reference

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10 January 2020

main subject

glycogen storage disease

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glycogen metabolic process

inferred from title

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P R Joshi

1

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10 January 2020

D Gläser

2

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10 January 2020

S Schmidt

3

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10 January 2020

M Vorgerd

4

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10 January 2020

M Winterholler

5

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10 January 2020

K Eger

6

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10 January 2020

S Zierz

7

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10 January 2020

M Deschauer

8

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10 January 2020

publication date

10 July 2008

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Journal of Inherited Metabolic Disease

10 January 2020

published in

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10 January 2020

volume

31 Suppl 2

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10 January 2020

page(s)

S261-5

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https://scigraph.springernature.com/pub.10.1007/s10545-008-0820-2

10 January 2020

exact match

0 references

cites work

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

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

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

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Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

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

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

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Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk

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Genotype-phenotype correlation in adult-onset acid maltase deficiency

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Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

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12 December 2020

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

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12 December 2020

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

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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

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

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Molecular genetic study of Pompe disease in Chinese patients in Taiwan

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The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.

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Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

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

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

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

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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).

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12 December 2020