Rare Diseases

Current bibliography for experts

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FABRY

A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease

2023-06-10

This article reports a rare familial case of inherited cardiac Fabry disease (FD) associated with a novel double mutation in the GLA gene: W24R and N419D.

ENZIM REPLASMA TERAPISI

Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?

2023-03-29

This paper presents a family in which a novel GLA pathogenic variant was associated with aseptic meningitis in 2 of 5 family members.

CTX

Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure

2022-09-26

This article presents an instance of cerebrotendinous xanthomatosis (CTX) manifest as neonatal cholestasis (NC) and requiring liver transplantation (LT).

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

Treatment of latent tuberculosis in a child with mucopolysaccharidosis type I receiving enzyme replacement therapy: A case report

2022-08-16

This case report demonstrates that tuberculosis and mucopolysaccharidosis type I S can be treated simultaneously without serious adverse effects.

GAUCHER

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report

2022-05-12

This report highlights the necessity of screening the Tunisian population for the rare p.Arg87Trp variant.

NMDS

Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations

2022-03-02

This study investigates the potential contribution of the ubiquitin-proteasome pathway to increased SERCA degradation in LGMDR1.

GAUCHER

Newborn screening for Gaucher disease in Japan

2022-02-18

The prevalence of Gaucher disease (GD) using newborn screening (NBS) was 1 in 77,720 in Japan, which was higher than previously estimated frequency.

CTX

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

2022-02-10

This is the widest review of CTX (cerebrotendinous xanthomatosis) cases reported between the years 2000-2021. This study reports the largest cohort of Polish patients ever published, with the identification of two hot-spot mutations.

FABRY

Electrocardiographic Characteristics and Their Correlation with Echocardiographic Alterations in Fabry Disease

2022-01-22

The goal of this study was to look at electrocardiographic (ECG) characteristics in FD patients to see if there were any gender differences, as well as to see if ECG parameters were linked to structural and functional changes on transthoracic echocardiography (TTE).

POMPE

To detect potential pathways and target genes in infantile Pompe patients using computational analysis Bioimpacts

2022-01-01

In this study, the determination of key genes involved in the response to ERT for Pompe disease and potential molecular mechanisms were investigated.

CTX

Prevalence of cerebrotendinous xanthomatosis in cases with idiopathic bilateral juvenile cataract in ophthalmology clinics in Turkey

2021-10-25

The aim of this study was to determine the prevalence of cerebrotendinous xanthomatosis (CTX) in patients with idiopathic bilateral juvenile cataract in Turkey.

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