RT @JIMD_Editors: Our themed Sunday tweets begin with “something old” from 2010 The genotypic and phenotypic spectrum of pyridoxine‐depende…
RT @JIMD_Editors: Our themed Sunday tweets begin with “something old” from 2010 The genotypic and phenotypic spectrum of pyridoxine‐depende…
Our themed Sunday tweets begin with “something old” from 2010 The genotypic and phenotypic spectrum of pyridoxine‐dependent epilepsy due to mutations in ALDH7A1 Gunter Scharer et al https://t.co/Lzwn9pmQ3k https://t.co/AxBa3qf0jN
RT @JIMD_Editors: “Something old”: From 2010 Gunter Scharer et al looked at variants in the ALDH7A1 gene that encodes α‐aminoadipic semiald…
RT @JIMD_Editors: “Something old”: From 2010 Gunter Scharer et al looked at variants in the ALDH7A1 gene that encodes α‐aminoadipic semiald…
“Something old”: From 2010 Gunter Scharer et al looked at variants in the ALDH7A1 gene that encodes α‐aminoadipic semialdehyde dehydrogenase, one of the implicated enzymes in #PDE They found 3 phenotypic groups. #epilepsy https://t.co/Lzwn9pmQ3k https://t.