Rare Diseases

Current bibliography for experts

"Paediatric" search results...

XLH

Clinical guidelines for burosumab in the treatment of XLH in children and adolescents: British paediatric and adolescent bone group recommendations

2020-10-01

Burosumab, a recombinant human IgG1 monoclonal antibody, has been shown to improve phosphate homeostasis, which resolves the skeletal and non-skeletal manifestations of X-linked hypophosphataemia (XLH), in clinical trials (phases 2 and 3).

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.

GAUCHER

Endocrine and metabolic disorders in patients with Gaucher disease type 1: A review

2019-12-02

Gaucher disease (GD) is associated to a variety of hormonal and metabolic abnormalities, like nutritional problems, glucose metabolism disorders, and vitamin D deficiency. In order to improve healthcare for GD1 patients, it is necessary to actively search for and diagnose endocrine and metabolic disorders.

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.

ALFA-MANNOSIDOZ

Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group

2019-04-01

With the aim of developing a diagnostic algorithm for alpha-mannosidosis an international panel of experts met to reach a consensus by applying the nominal group technique.

FABRY

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease

2019-02-06

This article is a systematic review that includes 166 publications about enzyme replacement therapy (ERT) in the treatment of Fabry disease. When treatment is initiated early, better outcomes may be observed. There is a dose effect, according to the evidence. When data described in male patients, together with female and paediatric data, are evaluated, these inform clinical practice and therapeutic goals for individualized treatment.

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