Rare Diseases

Current bibliography for experts

"Niemann-pick Type A" search results...

NIEMANN-PICK

Niemann-Pick type A disease with new mutation: A case report

2022-07-27

This presentation describes a 1-year-old boy with neurodevelopmental delay, hepatosplenomegaly, and severe hypotonia.

ASMD

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic ASMD in adults: Oneyear results

2022-04-26

In individuals with acid sphingomyelinase deficiency (ASMD), olipudase alfa was well tolerated and associated with meaningful and wide-ranging improvements in disease pathology and clinically relevant endpoints compared to placebo.

NIEMANN-PICK

Niemann-Pick Disease Type A: A Rare Disease With a Fatal Outcome

2022-02-06

This article reports the case of a seven-month-old male infant who presented to the emergency department with continuous fever for one week, poor feeding, and failure to thrive

ASMD

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers

2020-05-15

In this review, clinically important endpoints as well as biochemical and imaging markers of ASMD are discussed and potential new biomarkers are identified.

News and Events

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

The annual ESHG 2025, European Conference on Human Genetics, will be held in Milan, Italy between 24-27 May 2024. Organi...

World Orphan Drug Congress 2025

World Orphan Drug Congress USA, one of the most important orphan drug and rare disease congresses, will be held in Bosto...

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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...