"Non-classic" search results...

The aim of the study was to provide longitudinal ophthalmic data of CLN2 patients with confirmed genetic mutation and non-classical disease course, marked by later onset, protracted progression and prolonged life span.

FABRY

Functional characterization of novel variants found in patients with suspected Fabry disease

2022-09-01

This paper presents four novel variants found in patients with suspicion of Fabry disease (FD).

FABRY

The 30-year Natural History of Non-classic Fabry Disease with an R112H Mutation

2022-06-01

This article is a report of a patient with a 30-year natural history of non-classic Fabry disease with an R112H mutation.

FABRY

Biomarkers in Fabry Disease, Implications for Clinical Diagnosis and Follow-up

2021-04-13

The use of various biomarkers in Fabry disease may help the diagnosis of the disease and the early detection of organ injury, and provide more information on disease progression and prognosis.

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

CLN2

Visual perception and macular integrity in non-classical CLN2 disease

FABRY

Functional characterization of novel variants found in patients with suspected Fabry disease

FABRY

The 30-year Natural History of Non-classic Fabry Disease with an R112H Mutation

FABRY

Biomarkers in Fabry Disease, Implications for Clinical Diagnosis and Follow-up

POMPE

Infantile-onset Pompe disease: Diagnosis and Management

News and Events

ASHG 2025

ESHG - Avrupa İnsan Genetiği Konferansı 2025

World Orphan Drug Congress 2025

Gene2info provides genetic diagnoce service for 23 of rare diseases