Rare Diseases

Current bibliography for experts

"Tripeptidyl Peptidase" search results...

CLN2

Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2

2022-08-31

This article reports a rare case of neuronal ceroid lipofuscinosis type 2 (CLN2) caused by two novel variants of TPP1.

CLN2

Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa

2021-05-14

Cerliponase alfa is able to postpone the onset of symptoms when used in the presymptomatic stage of neuronal ceroid lipofuscinosis type 2 (CLN2 disease).

CLN2

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

2021-04-21

The guidelines in this study provide solid evidence-based and expert-agreed advice on the risks/benefits of disease-modifying treatments and medical procedures used for the management of patients with CLN2 disease and other neurodegenerative diseases.

CLN2

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease

2021-04-01

The data of this study support the inclusion of neuronal ceroid lipofuscinosis type 2 (CLN2) disease, in the differential diagnosis of children who have seizures, behavioural disorders, or language abnormalities. Early diagnosis will allow early initiation of specific treatments.

CLN2

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

2019-11-01

Effective CLN2 disease management requires early diagnosis. This article updates on the spectrum of TPP1 variants associated with CLN2 disease.

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