"Gaa Gene" search results...

POMPE

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

2023-08-04

This is the first study to analyze the genotype and phenotype of Malaysian infantile-onset Pompe disease (IOPD) patients, and has identified the c.1935C > A p.(D645E) as the most common mutation.

POMPE

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

2022-10-22

This study presents the results from 7 years of newborn screening (NBS) for Pompe disease (PD) and the management of infantile-onset (IOPD) and late-onset (LOPD) patients.

POMPE

Development of a clinically validated in vitro functional assay to assess the pathogenicity of novel GAA variants in patients with Pompe disease

2022-09-30

There is an unmet need for validated functional studies to aid in classification of GAA variants.

POMPE

Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants

2022-01-15

In this study, 76 Spanish patients are reported with either infantile or late onset form of Pompe disease. Functional characterization of some splice mutations showed deleterious mechanisms on the processing of mRNA.

POMPE

To detect potential pathways and target genes in infantile Pompe patients using computational analysis Bioimpacts

2022-01-01

In this study, the determination of key genes involved in the response to ERT for Pompe disease and potential molecular mechanisms were investigated.

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

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes

2021-11-30

This study describes the unusual clinical, biochemical, histopathological and genetic characteristics of 5 cases of LOPD.

POMPE

Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

2021-05-21

The aim of this study was to identify genetic variations and clinical features in Spanish subjects to establish genotype-phenotype correlation.

POMPE

Pompe disease: Pathogenesis, molecular genetics and diagnosis

2020-08-03

Early detection is critical for preventing or reducing the permanent organ damage that comes with Pompe disease (PD) progression. Pathogenesis, clinical phenotypes, molecular genetics, diagnosis and treatments about PD are covered in this article.

POMPE

A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report

2020-07-15

Early diagnosis and early treatment with enzyme replacement therapy (ERT), especially in the neonatal period, is of great importance to improve cardiac function and motor development in infantile-onset Pompe disease (PD).

POMPE

Newborn Screening for Pompe Disease

2020-04-05

Newborn screening (NBS) is the most effective method for detecting and treating Pompe Disease (PD) early on. On the other hand, current NBS systems are unable to distinguish between pseudodeficiency and cases with PD or potential PD. Therefore, a combination of GAA gene analysis with NBS is needed for definitive PD diagnoses.

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

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

POMPE

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

POMPE

Development of a clinically validated in vitro functional assay to assess the pathogenicity of novel GAA variants in patients with Pompe disease

POMPE

Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants

POMPE

To detect potential pathways and target genes in infantile Pompe patients using computational analysis Bioimpacts

POMPE

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

POMPE

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes

POMPE

Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

POMPE

Pompe disease: Pathogenesis, molecular genetics and diagnosis

POMPE

A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report

POMPE

Newborn Screening for Pompe Disease

POMPE

Molecular genetics of Pompe disease: A comprehensive overview

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