Rare Diseases

Current bibliography for experts

"Mdr3" search results...

PFIC

Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review

2024-12-01

This case report describes a novel homozygous ABCB4 variant (c.2870G>T, p.Arg957Leu) in a 16-year-old female with progressive familial intrahepatic cholestasis type 3 (PFIC-3), who achieved complete biochemical remission on ursodeoxycholic acid (UDCA) without requiring liver transplantation.

NMDS

Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review

2022-01-01

This review illustrated that patients with early childhood-onset disease tend to have faster progression to loss of ambulation than those with late childhood- or adult-onset disease, particularly in LGMDR9.

News and Events

2nd Symposium on Phenylketonuria and Screening in Metabolic Diseases 2026

The 2nd Symposium on Phenylketonuria and Screening in Metabolic Diseases (FEMETS) will be held on October 23–24, 2026.

European Conference on Human Genetics 2027

The annual ESHG 2027, European Conference on Human Genetics, will be held in Rotterdam, Netherland between 12-15 June 20...

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...