Rare Diseases

Current bibliography for experts

"Alfa-mannosidoz" search results...

ALFA-MANNOSIDOZ

Mortality in patients with alpha-mannosidosis: A review of patients' data and the literature

2022-07-23

This study aimed to investigate the age at death and the causes of death of patients with alpha-mannosidosis who had not received disease-modifying treatment.

ALPHA-MANNOSIDOSIS

Long-term outcome of patients with alpha-mannosidosis - A single center study

2021-12-09

The aim of this study was to present the long-term follow-up of 12 Polish patients with alpha-mannosidosis (AM), evaluate the clinical, biochemical, and molecular findings and progression of the disease.

ALFA-MANNOSIDOZ

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

2021-10-06

This article presents the clinical and genetic study of six patients from two Tunisian families with alpha-mannosidosis.

ALFA-MANNOSIDOZ

Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene

2021-09-16

This article presents a 7-year-old girl child, born of a consanguineous marriage, presented with developmental delay, seizures, and hearing impairment.

ALFA-MANNOSIDOZ

Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group

2019-04-01

With the aim of developing a diagnostic algorithm for alpha-mannosidosis an international panel of experts met to reach a consensus by applying the nominal group technique.

News and Events

ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

ESHG - Avrupa İnsan Genetiği Konferansı 2025

The annual ESHG 2025, European Conference on Human Genetics, will be held in Milan, Italy between 24-27 May 2024. Organi...

World Orphan Drug Congress 2025

World Orphan Drug Congress USA, one of the most important orphan drug and rare disease congresses, will be held in Bosto...

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...