Clinical and molecular findings in three japanese patients with n-acetylneuraminic acid synthetase-congenital disorder of glycosylation (nans-cdg)

HIGHLIGHTS

• who: Yohei Masunaga from the DepartmentHamamatsu University have published the research work: Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG), in the Journal: Scientific Reports Scientific Reports
• how: The authors obtained written informed consent for study participation and for the publication of patient`s clinical information including photos from the parents of patients 1-3.

SUMMARY

Patient 1 was delivered by Caesarean section at 35 weeks of gestation because of progressive head enlargement, whereas patients 2 and 3 were born . . .

 



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