Article

A Descriptive Study on the Characteristics of Cardiomyopathy Patients with Acid α-Glucosidase (GAA) Pseudo-deficiency Allele and the Clinical Significance in a Tertiary Heart Centre in Malaysia

2024-04-04

Abstract excerpt

<title>Abstract</title> <p>Background GAA pseudo-deficiency is a change in the GAA genetic sequence that results in GAA enzyme activity reduction. It generally has no clinical consequence among newborns and children. However, the long-term clinical consequences into adulthood have not been well studied. This study aims to study the characteristics of cardiomyopathy patients who carry GAA pseudo-deficiency allele...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1fb0f5e1-4f82-5b17-a920-ac8180db01d8
DOI: 10.21203/rs.3.rs-4135323/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A Descriptive Study on the Characteristics of Cardiomyopathy Patients with Acid α-Glucosidase (GAA) Pseudo-deficiency Allele and the Clinical Significance in a Tertiary Heart Centre in MalaysiaDOI 10.21203/rs.3.rs-4135323/v1Read

Genotyping Indian patients with primary cardiomyopathies-analysis of database.Semantic proximity Read

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

From Past to Present: Pompe Disease, Pseudodeficiency Alleles, and Diagnostic ChallengesSemantic proximity Read

Successful Experience with High-Risk and Family Screening for Fabry Disease in Ninghai County, Zhejiang Province, Eastern China: Genotype‒Phenotype Analysis of the GLA IVS4+919G>A VariantSemantic proximity Read

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe RegistrySemantic proximity Read

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

A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in JapanSemantic proximity Read

[Construction of a genotype-phenotype database and machine learning models for pseudohypertrophic muscular dystrophy].Semantic proximity Read

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in ThailandSemantic proximity Read

High prevalence of GAA c.[752C > T;761C > T] haplotype complicates high-risk screening for Pompe disease in the Chinese population.Semantic proximity Read

In Memoriam: Haig H. Kazazian, Jr. (1937-2022)Semantic proximity Read

[A case of Fabry disease in a family with GLA gene c.92C>A mutation].Semantic proximity Read