Rare Diseases

Current bibliography for experts

"Early Diagnosis" search results...

FABRY

Biomarkers in Fabry Disease, Implications for Clinical Diagnosis and Follow-up

2021-04-13

The use of various biomarkers in Fabry disease may help the diagnosis of the disease and the early detection of organ injury, and provide more information on disease progression and prognosis.

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.

FABRY

Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week

2021-02-23

The diagnosis and staging of FD-related cardiac diseases have improved thanks to advances in imaging techniques, suggesting that myocardial inflammation plays a significant role in the development of the disease.

MPS

Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement

2021-01-29

There are two types of the Mucopolysaccharidosis type I (MPS I) disease: severe form (Hurler syndrome) and attenuated form (Hurler-Scheie, Scheie). Current treatments can partially prevent, but not significantly improve, clinical manifestations, necessitating early diagnosis of disease and commencement of treatment.

CTX

Cerebrotendinous xanthomatosis: A report of 3 cases

2020-10-16

In this article, three cases of cerebrotendinous xanthomatosis with similar clinical symptoms are presented to demonstrate the necessity of early diagnosis.

CLN2

MRI in CLN2 disease patients: Subtle features that support an early Diagnosis

2020-09-28

The aim of this study is to highlight common magnetic resonance imaging (MRI) features seen in early CLN2 disease and raise disease awareness among clinicians. Any of the mentioned features on MRI in this article should raise clinical suspicion to test for CLN2 disease.

POMPE

A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report

2020-07-15

Early diagnosis and early treatment with enzyme replacement therapy (ERT), especially in the neonatal period, is of great importance to improve cardiac function and motor development in infantile-onset Pompe disease (PD).

FABRY

Diagnosis and Screening of Patients with Fabry Disease

2020-06-22

The aim of this review was to provide an update on diagnosis and screening of patients with Fabry disease (FD).

LIPODISTROFI

Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People

2020-03-19

This study highlights the importance of early diagnosis in patients with lipodystrophy, although there is no definitive treatment for this disorder. It is emphasized that effective strategies should be developed to overcome the difficulties in the management of lipodystrophy in children and adolescents.

XLH

Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH)

2020-02-10

Diagnostic criteria of XLH and the principles of disease management with conventional treatment or with burosumab are reviewed in this paper.

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.

FABRY

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

2019-08-01

This article emphasizes the importance of early diagnosis and treatment of Fabry disease for preventing organ damage, morbidity, and premature mortality in adulthood.

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