(Q51021056)

27 March 2018

title

Rapid progressive course of later-onset Pompe disease in Chinese patients. (English)

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author

Wuh-liang Hwu

9

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author name string

Chih-Chao Yang

1

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Yin-Hsiu Chien

2

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27 March 2018

Ni-Chung Lee

3

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Shu-Chuan Chiang

4

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Shuan-Pei Lin

5

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Yung-Ting Kuo

6

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Shun-Sheng Chen

7

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Yuh-Jyh Jong

8

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publication date

22 June 2011

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Molecular Genetics and Metabolism

published in

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27 March 2018

volume

104

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issue

3

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page(s)

284-288

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

cites work

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

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

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7 January 2021

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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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The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

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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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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

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p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

7 January 2021

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Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase"

7 January 2021

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High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.

7 January 2021

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Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families

7 January 2021

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7 January 2021

Identifiers

DOI

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27 March 2018

PubMed ID

21757382

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27 March 2018