Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. [electronic resource]
Producer: 20150212Description: 888-95 p. digitalISSN:- 1476-5438
- Adolescent
- Agenesis of Corpus Callosum -- diagnosis
- Aldehyde Dehydrogenase -- genetics
- Carrier Proteins -- genetics
- Child
- Child, Preschool
- Cutis Laxa -- diagnosis
- Epilepsy -- diagnosis
- Female
- Glycosylation
- Guanine Nucleotide Exchange Factors -- genetics
- Humans
- Male
- Mitochondrial Proton-Translocating ATPases -- genetics
- Prospective Studies
- Pyrroline Carboxylate Reductases -- genetics
- delta-1-Pyrroline-5-Carboxylate Reductase
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.