Acyl-CoA Dehydrogenase Deficiency and RS

Pediatric Neurology Briefs

J Gordon Millichap¹ 

[1]Northwestern University Feinberg School ofMedicine

关键词: medium-chain acyl-coa dehyrogenase;    hypotonia;    bilateral spikes;   

DOI  :  10.15844/pedneurbriefs-8-5-7

来源: DOAJ

【 摘 要 】

A female infant with medium-chain acyl-CoA dehyrogenase (MCAD) deficiency who was diagnosed with Rett syndrome at 3.5 years is reported from Twenteborg Hospital, Almelo, and Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.

【 授权许可】

Unknown