4.0 Article

Mild Phenotype in a Male with Pyruvate Dehydrogenase Complex Deficiency Associated with Novel Hemizygous In-Frame Duplication of the E1α Subunit Gene (PDHA1)

Journal

NEUROPEDIATRICS
Volume 45, Issue 01, Pages 056-060

Publisher

Georg Thieme Verlag KG
DOI: 10.1055/s-0033-1341601

Keywords

-

Ask authors/readers for more resources

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.0
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

No Data Available
No Data Available