Rare Diseases

Current bibliography for experts

"Hematopoietic Stem Cell Transplantation" search results...

ASMD

Case report: The spectrum of SMPD1 pathogenic variants in Hungary

2023-06-06

This article reports the first description of all six diagnosed acid sphingomyelinase deficiency cases in Hungary.

MPS

Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study

2021-10-22

The aim of this study was to investigate the decline of activities of daily living with symptomatic progression in patients with mucopolysaccharidosis type II (MPS II) and investigate the associated factors.

MPS

Features and behavior of valvular abnormalities in adolescent and adult patients in mucopolysaccharidosis: An echocardiographic study

2021-08-09

A systematic descriptive study describing the echocardiographic features of valvular involvement and their evolution in adolescent and adult patients lacks of medical literature and this was the aim of our investigation.

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.

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

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.

ADA

Adenosine deaminase deficiency: A review

2018-04-24

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

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ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

ESHG - Avrupa İnsan Genetiği Konferansı 2025

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World Orphan Drug Congress 2025

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Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...