Rare Diseases

Current bibliography for experts

"Molecular Analysis" search results...

CTX

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

2021-01-08

In this study reports two siblings who have cerebrotendinous xanthomatosis (CTX). The atypical biochemical presentation of these cases emphasizes the importance of a comprehensive investigation of patients with symptomatology consistent with CTX.

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.

MPS

Delayed diagnosis of mild mucopolysaccharidosis type IVA

2024-06-03

This study investigates the clinical and molecular characteristics of 13 patients with mild Mucopolysaccharidosis type IVA (MPS IVA) to address the issue of delayed diagnosis.

News and Events

ESHG 2026

ESHG 2026, European Conference on Human Genetics, will be held in Gothenburg, Sweden.

18th International Congress on Metabolic Diseases and Nutrition

18th International Congress on Metabolic Diseases and Nutrition will be held between April 27 and May 1, 2026.

I-PAS Academy 2026

İ-PAS Academy 2026 will be held between October 1–4, 2026, at the Hilton Dalaman Sarıgerme Resort & Spa.

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Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...