Rare Diseases

Current bibliography for experts

"Language Delay" search results...

CLN2

Unraveling neuronal ceroid lipofuscinosis type 2

2021-06-04

In this study, the majority of the patients presented with late-infantile onset seizures. Despite improved access to enzymatic and molecular testing, there is still a significant diagnostic delay

CLN2

MRI in CLN2 disease patients: Subtle features that support an early Diagnosis

2020-09-28

The aim of this study is to highlight common magnetic resonance imaging (MRI) features seen in early CLN2 disease and raise disease awareness among clinicians. Any of the mentioned features on MRI in this article should raise clinical suspicion to test for CLN2 disease.

CLN2

Neuronal ceroid lipofuscinosis type 2: An Australian case series

2020-04-24

This article aims to highlight typical clinical and radiological features that may prompt diagnosis of CLN2 disease in early disease stages.

CLN2

Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

2020-03-30

The natural history of CLN2 disease, its diagnosis and management, and the preclinical and clinical development of cerliponase alfa, were all described in this study. Cerliponase alfa administration in patients with CLN2 disease resulted in significant reductions in the rate of decline of motor and language functions.

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