Rare Diseases

Current bibliography for experts

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MPS

Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities

2022-01-08

Following a consensus-based methodology, a multidisciplinary panel shared their experience on a possible clinical approach to the diagnosis of MPS Ia in children with short stature or stunted growth

POMPE

Clinical manifestations and acid alpha-glucosidase mutation characterization of a cohort of patients with late-onset Pompe disease in eastern China

2021-12-01

This study has identified four novel variants in patients with LOPD. The c.2238G>C (p.W746C) mutation was the most common mutation in 14 patients with LOPD from eastern China.

FABRY

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

2021-06-27

This study is the largest reported to date in Europe and presents data from long-term NBS for Fabry disease (FD) that reveals the current incidence of FD in northeastern Italy

FABRY

Diagnosis and Screening of Patients with Fabry Disease

2020-06-22

The aim of this review was to provide an update on diagnosis and screening of patients with Fabry disease (FD).

LIPODISTROFI

Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People

2020-03-19

This study highlights the importance of early diagnosis in patients with lipodystrophy, although there is no definitive treatment for this disorder. It is emphasized that effective strategies should be developed to overcome the difficulties in the management of lipodystrophy in children and adolescents.

POMPE

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

2019-11-01

This study reports the number, nature, frequency, and geographic distribution of GAA sequence variants listed in the Pompe Registry. These data provide new information about the distribution of GAA variants globally and across the clinical spectrum, provide a first indication of the severity of novel variants, and assist in diagnostic practice and outcome prediction.

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.

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ASHG 2025

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

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Gene2info provides genetic diagnoce service for 23 of rare diseases

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