Rare Diseases

Current bibliography for experts

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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.

GAUCHER

Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene

2023-01-01

This report provides the precious experience of the clinical presentation of perinatal lethal Gaucher disease (PLGD) and advice on reproductive medicine for the next pregnancy in a couple.

FABRY

Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene

2022-12-01

p.Pro380Leu novel pathogenic variant of GLA gene should be considered as pathogenic and associated with a late-onset variant of Fabry disease with a predominant neurological phenotype.

CTX

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report

2022-10-16

This study reports the clinical, biochemical, and molecular characterization of a 33-year-old female patient with cerebrotendinous xanthomatosis.

FABRY

Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly)

2022-05-01

Precise clinical evaluation in individuals diagnosed with genetic variations of unknown significance should be performed to distinguish common symptoms broadly prevalent in the general population from those secondary to Fabry disease.

CTX

A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene

2022-05-01

This case report emphasizes the necessity of keeping a high index of suspicion as the key to a timely diagnosis of cerebrotendinous xanthomatosis (CTX), which has a clinical diversity and, if detected early, the favorable treatment response.

FABRY

Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression

2022-02-01

Start of treatment with enzyme replacement therapy (ERT) before age 16, in male classical Fabry disease (cFD) patients, is associated with reduced occurrence of renal and cardiac manifestations of Fabry disease (FD), as assessed by intermediate endpoints.

FABRY

Cognitive dysfunction and white matter hyperintensities in Fabry disease

2022-01-07

Neuropsychological assessment and rehabilitation should be routinely offered to patients with Fabry Disease.

FABRY

First manifestation of Fabry's disease by psychotic episode associated with thalamic ischemic stroke

2021-12-27

The inclusion of psychiatric exploration and screening in the routine examination of patients with Fabry's disease as well as a brain MRI on initial diagnosis of Fabry's disease should be considered.

MPS

Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series

2021-10-19

This case series shows the high disease burden of the mucopolysaccharidosis (MPS) VI population in Turkey and provides a unique insight into their clinical journey based on real-life clinical and event-based data collected before and after initiation of enzyme replacement therapy (ERT).

CLN2

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

2021-09-01

This study supports comprehensive genetic testing for patients whose first seizure occurs ≥ 24 months of age. It also supports early application of testing in this age group, as the identified diagnoses can have significant impact on patient management and outcome.

FABRY

Value of Left Ventricular Feature Tracking Strain Analysis for Detection of Early Cardiac Involvement in Fabry Disease (FD)

2021-08-22

According to the findings of this study, strain abnormalities occur early beside native T1 reductions in cardiac FD involvement.

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