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ORPHANET Company Profile

15:06 EDT 24th September 2018 | BioPortfolio

Nil

Location

102 rue Didot
Paris
75014
France


News Articles [0 Results]

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Drugs and Medications [0 Results]

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PubMed Articles [3 Associated PubMed Articles listed on BioPortfolio]

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 ...

Cellular Models for the Serpinopathies.

Our current knowledge about the cellular mechanisms underlying serpin-related disorders, the serpinopathies, is predominantly based on studies in cell culture models of disease, particularly for alpha...

Identification of Misclassified ClinVar Variants via Disease Population Prevalence.

There is a significant interest in the standardized classification of human genetic variants. We used whole-genome sequence data from 10,495 unrelated individuals to contrast population frequency of p...

Clinical Trials [0 Results]

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More Information about "ORPHANET" on BioPortfolio

We have published hundreds of ORPHANET news stories on BioPortfolio along with dozens of ORPHANET Clinical Trials and PubMed Articles about ORPHANET for you to read. In addition to the medical data, news and clinical trials, BioPortfolio also has a large collection of ORPHANET Companies in our database. You can also find out about relevant ORPHANET Drugs and Medications on this site too.

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