Rare Diseases

Current bibliography for experts

POMPE

Pompe disease is an inherited disorder caused by the buildup of glycogen in the body's cells. Mutations in the GAA gene are responsible for Pompe disease.

POMPE

Multisystem late onset Pompe disease (LOPD): An update on clinical aspects

2019-07-01

Although Pompe disease was once thought to be predominantly a muscle disorder, it is now obvious that there is involvement of multiple other organs. Great efforts have been made for clarifying the clinical aspects of Pompe disease, raising awareness of the challenges that LOPD patients face, and improving their quality of life.

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.

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

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

2018-08-01

The goal of this study was to look at ERT-related skeletal muscle alterations as well as the connection between morphological/biochemical changes and clinical outcomes in patients with late-onset Pompe disease (LOPD). In the majority of LOPD patients, ERT improved skeletal muscle pathology, as well as motor and respiratory outcomes.

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.

All News

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...