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GAUCHER

Development and Validation of Gaucher Disease Type 1 (GD1)-Specific Patient-Reported Outcome Measures (PROMs) for Clinical Monitoring and for Clinical Trials

2022-01-06

Development of the ctGD1-PROM represents an important step forward for researchers measuring the impact of GD and its respective treatment.

POMPE

COVID-19 infection in patients with late-onset Pompe disease

2021-12-24

Individuals with late-onset Pompe disease (LOPD) remain at high risk and should receive COVID-19 vaccinations and exercise precautions to avoid exposure to COVID-19 infection.

XLH

Adult rheumatologic features, treatment and complications of X-linked hypophosphatemia

2021-10-01

Regarding the incidence and consequences of musculoskeletal features in X-linked hypophosphatemia (XLH), all patients should be assessed by a bone disease specialist and, if necessary, managed by a multidisciplinary team.

ASMD

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

2017-02-23

While knowledge about ASMD is evolving, more evidence about ASMD and the natural history across the disease spectrum is needed, to improve disease recognition, timely diagnosis and appropriate disease management.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

GAUCHER

Development and Validation of Gaucher Disease Type 1 (GD1)-Specific Patient-Reported Outcome Measures (PROMs) for Clinical Monitoring and for Clinical Trials

POMPE

COVID-19 infection in patients with late-onset Pompe disease

XLH

Adult rheumatologic features, treatment and complications of X-linked hypophosphatemia

ASMD

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

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ASHG 2025

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Gene2info provides genetic diagnoce service for 23 of rare diseases