"Gaa Mutation" search results...

POMPE

Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease)

2022-03-21

Mutational analysis of GAA and muscle biopsy are crucial in the diagnosis of Pompe disease.

POMPE

Clinical manifestations and acid alpha-glucosidase mutation characterization of a cohort of patients with late-onset Pompe disease in eastern China

2021-12-01

This study has identified four novel variants in patients with LOPD. The c.2238G>C (p.W746C) mutation was the most common mutation in 14 patients with LOPD from eastern China.

POMPE

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

2021-03-31

This study emphasizes the multisystem nature of late-onset type of Pompe disease (LOPD) and highlights the polygenic nature of the complex phenotype disclosed in these patients.

XLSD

Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants

2021-01-27

The study's goal was to determine the prevalence of the three treatable types of lysosomal storage disorders (Gaucher disease [GD], Pompe disease [PD], and Fabry disease [FD]) in a cohort of primarily urban-dwelling Africans, a previously unexplored genetic environment for LSDs.

POMPE

Molecular genetics of Pompe disease: A comprehensive overview

2019-07-01

To date, 582 mutations have been reported across the entire GAA gene which cause Pompe disease (PD). The data gathered in this review gives an overview of the molecular genetics of PD and can be used to help with diagnosis and genetic counselling of families who are affected by this disorder.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

POMPE

Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease)

POMPE

Clinical manifestations and acid alpha-glucosidase mutation characterization of a cohort of patients with late-onset Pompe disease in eastern China

POMPE

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

XLSD

Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants

POMPE

Molecular genetics of Pompe disease: A comprehensive overview

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