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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.

POMPE

Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: A cohort description

2022-03-04

In the light of this research, it is aimed to gather information about the course of SARS-CoV-2 infection and side effects of COVID-19 vaccinations in patients with Glycogen Storage Disease type II (GSDII).

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.

ASMD

Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency

2020-12-01

Individuals with chronic ASMD have considerable alterations in their oral health, including a higher prevalence of dental abnormalities, caries, periodontal disease, and skeletal changes, in addition to various systemic indications.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

ALFA-MANNOSIDOZ

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

POMPE

Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: A cohort description

GAUCHER

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

ASMD

Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency

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