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This review summarizes the history of Mucopolysaccharidosis type II (MPS II, Hunter syndrome) through clinical and laboratory evaluations that allowed its correct diagnosis, pathogenesis, and therapeutic protocols. The main issues are also highlighted related to the possible newborn screenings for MPS II, brain pathogenesis, and treatment of the neurological compartment.

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.

MPS

A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management

2020-02-01

Early and accurate diagnosis in the asymptomatic stage is critical for mucopolysaccharidosis (MPS) patients. This study updates details on the clinical manifestations, diagnosis, and treatment of the various types of MPS with the hopes of generating further interest in the disease.

ADA

Chest Radiographs for Distinguishing ADA-SCID from Other Forms of SCID

2020-02-01

Radiological features such as scapular spurring, scapular squaring and costochondral cupping can reliably differentiate between ADA-SCID and other forms of SCID.

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.

ADA

Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency

2019-03-01

In this study, currently available evidence about ADA-SCID was reviewed and a consensus management strategy was proposed. The outcomes of novel strategies should be evaluated prospectively in real life conditions for the management guidelines.

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.

Α-MANNOSIDOSIS

Retinal and optic nerve degeneration in α-mannosidosis

2018-06-01

Optical coherence tomography (OCT) technology helps detecting early outer retinal thinning which can progress with age and potentially leads to vision loss over time.

ADA

Adenosine deaminase deficiency: A review

2018-04-24

This article reviews the biology, clinical presentation, diagnosis and treatment of adenosine deaminase (ADA) deficiency.

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.

LIPODISTROFI

Type 1 familial partial lipodystrophy: Understanding the Köbberling syndrome

2016-11-01

This case-controlled study aimed to characterize this syndrome better by evaluating a group of women with phenotypic features of type 1 familial partial lipodystrophy.

Rare Diseases

Current bibliography for experts