Associated Papers
An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records.
Rustamov J et al.
Scientific Reports, 2024
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
38361118 (PubMed )
Supplement: 41598_2024_54413_MOESM1_ESM.xlsx › Table_S3
A novel compound heterozygous variant in ALPK3 induced hypertrophic cardiomyopathy: a case report.
Li T et al.
Frontiers in Cardiovascular Medicine, 2023
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.
Jorholt J et al.
Genes, 2020
Phenotypic spectrum of ALPK3-related cardiomyopathy.
Al Senaidi K et al.
American Journal of Medical Genetics. Part A, 2019
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