Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature
Journal of Medical Genetics Oct 04, 2017
Schiff M, et al. - This research sought a better characterization of the natural history of phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG). It was determined that PMM2-CDG clinical phenotype was heterogeneous with regard to the clinical course. It did not display any clear division between the neurological and visceral presentations.
Go to Original
Only Doctors with an M3 India account can read this article. Sign up for free or login with your existing account.
4 reasons why Doctors love M3 India
-
Exclusive Write-ups & Webinars by KOLs
-
Daily Quiz by specialty
-
Paid Market Research Surveys
-
Case discussions, News & Journals' summaries