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FABRY

Twenty years of the Fabry Outcome Survey (FOS): Insights, achievements, and lessons learned from a global patient registry

2022-06-20

This study reviews the history of the Fabry Outcome Survey (FOS) and the analyses and publications disseminated from the registry, and discusses the contributions FOS studies have made in understanding Fabry Disease (FD).

FABRY

Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression

2022-02-01

Start of treatment with enzyme replacement therapy (ERT) before age 16, in male classical Fabry disease (cFD) patients, is associated with reduced occurrence of renal and cardiac manifestations of Fabry disease (FD), as assessed by intermediate endpoints.

GAUCHER

Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment

2021-02-01

This study reports hematologic, visceral, bone pain, bone crisis, height, weight, and BMI outcomes in patients treated for 20 (±3) years with subset analyses based on pre-treatment severity, genotype, and age at treatment initiation. As a result, imiglucerase is found as an effective, long-term treatment for GD1. Improvements seen during early treatment years are sustained by continuing treatment for 20 years, except for bone pain in non-splenectomized patients.

POMPE

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

2021-01-07

In this cross-sectional study, it is aimed to identify early signs of diaphragmatic weakness in Pompe patients using chest MRI.

POMPE

A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report

2020-07-15

Early diagnosis and early treatment with enzyme replacement therapy (ERT), especially in the neonatal period, is of great importance to improve cardiac function and motor development in infantile-onset Pompe disease (PD).

ADA-SCID

Urogenital Abnormalities in Adenosine Deaminase Deficiency

2020-05-01

According to our findings, it is essential to include urogenital evaluation in ADA-SCID patients to detect any abnormalities, initiate early treatment, and prevent long-term complications.

POMPE

Infantile-onset Pompe disease: Diagnosis and Management

2019-08-01

This study updates the available clinical and diagnostic data about Pompe disease. The benefits and side effects of existing treatments and new therapeutic research are also reviewed.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

FABRY

Twenty years of the Fabry Outcome Survey (FOS): Insights, achievements, and lessons learned from a global patient registry

FABRY

Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression

GAUCHER

Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment

POMPE

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

POMPE

A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report

ADA-SCID

Urogenital Abnormalities in Adenosine Deaminase Deficiency

POMPE

Infantile-onset Pompe disease: Diagnosis and Management

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