Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Gardeitchik, Thatjana
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. [electronic resource] - European journal of human genetics : EJHG Jul 2014 - 888-95 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1476-5438
10.1038/ejhg.2013.154 doi
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
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. [electronic resource] - European journal of human genetics : EJHG Jul 2014 - 888-95 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1476-5438
10.1038/ejhg.2013.154 doi
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