Rare Diseases

Current bibliography for experts

"Disease Management" search results...

XLH

Adult rheumatologic features, treatment and complications of X-linked hypophosphatemia

2021-10-01

Regarding the incidence and consequences of musculoskeletal features in X-linked hypophosphatemia (XLH), all patients should be assessed by a bone disease specialist and, if necessary, managed by a multidisciplinary team.

MPS

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

2021-08-13

Mutation updates are essential for the correct molecular diagnoses, genetic counseling, prenatal and preimplantation diagnosis, and disease management.

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.

ASMD

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

2017-02-23

While knowledge about ASMD is evolving, more evidence about ASMD and the natural history across the disease spectrum is needed, to improve disease recognition, timely diagnosis and appropriate disease management.

MPS

Unique medical issues in adult patients with mucopolysaccharidoses

2016-10-01

In this article, the distinctive pattern of medical difficulties and multi-organ involvement seen in adult patients with mucopolysaccharidosis (MPS) is highlighted, as well as the obstacles that come with MPS management.

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