ORPHANET Company Profile

18:34 EDT 24th June 2018 | BioPortfolio



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PubMed Articles [6 Associated PubMed Articles listed on BioPortfolio]

Harmonising phenomics information for a better interoperability in the rare disease field.

HIPBI-RD (Harmonising phenomics information for a better interoperability in the rare disease field) is a three-year project which started in 2016 funded via the E-Rare 3 ERA-NET program. This project...

Retinal and optic nerve degeneration in α-mannosidosis.

α-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease caused by a deficient activity of α-mannosidase. Typical symptoms include intellectual, motor and hearing impairment, facial ...

An overview of the impact of rare disease characteristics on research methodology.

About 30 million individuals in the United States are living with a rare disease, which by definition have a prevalence of 200,000 or fewer cases in the United States ([National Organization for Rare ...

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency.

Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy...

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.

Many of the genetic childhood disorders leading to death in the pre- or neonatal period or during early childhood follow autosomal recessive modes of inheritance and bear specific challenges for genet...

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