Studies Archives

Mar 08

Updated NGLY1 Deficiency Information on GeneReviews

By admin | NGLY1 Deficiency, Studies | No Comments

New information on NGLY1 Deficiency has been published on the National Center for Biotechnology Information's GeneReviews website. It contains information on the following topics: Diagnosis Clinical Characteristics Genetically Related (Allelic) Disorders...

Jun 08

NIH CDG/NGLY1 Study – Now Recruiting!

By admin | Studies | No Comments

Clinical and Basic Investigations into Known and Suspected Congenital Disorders of Glycosylation This study is currently recruiting participants. Summary | Eligibility | Citations | Contacts Summary Number 14-HG-0071 Sponsoring Institute National Human Genome Research Institute (NHGRI)…

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Updated NGLY1 Deficiency Information on GeneReviews

NIH CDG/NGLY1 Study – Now Recruiting!

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