Rare Diseases

Current bibliography for experts

"Aberrant Splicing" search results...

POMPE

A genetic modifier of symptom onset in Pompe disease

2019-05-01

A cohort of 143 compound heterozygous and 10 homozygous IVS1 patients were analyzed in this article. c.510CNT is a genetic modifier in compound heterozygous and homozygous IVS1 patients. This finding is important for neonatal screening programs for Pompe disease.

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.

MPS

Delayed diagnosis of mild mucopolysaccharidosis type IVA

2024-06-03

This study investigates the clinical and molecular characteristics of 13 patients with mild Mucopolysaccharidosis type IVA (MPS IVA) to address the issue of delayed diagnosis.

News and Events

ESHG 2026

ESHG 2026, European Conference on Human Genetics, will be held in Gothenburg, Sweden.

18th International Congress on Metabolic Diseases and Nutrition

18th International Congress on Metabolic Diseases and Nutrition will be held between April 27 and May 1, 2026.

I-PAS Academy 2026

İ-PAS Academy 2026 will be held between October 1–4, 2026, at the Hilton Dalaman Sarıgerme Resort & Spa.

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Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...