"Case Series" search results...

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

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.

MPS

Mucopolysaccharidosis Type I-Associated Corneal Disease: A Clinicopathologic Study

2021-11-01

Excised corneas of MPS I patients show characteristic epithelial changes, disruption or breaks in Bowman's membrane, and amphophilic collections of stromal granular mucopolysaccharides. These changes should alert the pathologist to the possibility of an underlying lysosomal storage disorder.

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).

NCL

Neuronal Ceroid Lipofuscinoses in Children

2021-03-01

Neuronal ceroid lipofuscinoses (NCL) is not uncommon and diagnosis can be suspected based on clinical investigations and neuroimaging findings.

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.

CTX

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis

2019-01-01

Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. In CTX disease, early diagnosis and treatment is crucial in preventing clinical deterioration.

CTX

Natural history of neurological abnormalities in cerebrotendinous xanthomatosis

2018-07-04

Highlights: The object of this study was to determine neurological progression in CTX. We provide estimates for the neurological progression of CTX, categorizing neurological abnormalities according to time and probability of development. Our approach may be applicable to other rare disorders.

Rare Diseases

Current bibliography for experts