Articles on VLCAD eksikliği

1 articles published in Selcuk Medical Journal with the keyword "VLCAD eksikliği": Very Long-Chain Fatty Acid Dehydrogenase Deficiency In Newborn

VERY LONG-CHAIN FATTY ACID DEHYDROGENASE DEFICIENCY IN NEWBORN

NİLÜFER GÜZOĞLU, BİRGÜL SAY, NURDAN URAS, UĞUR DİLMEN

2014, Vol 30, Issue 3, Page 137-138

Very long-chain fatty acid dehydrogenase (VLCAD) deficiency is an autosomal recessive disorder of mitochondrial fatty acid oxidation. Elevated plasma level of acyl-carnitine by Tandem mass spectrometry prompts the diagnosis of VLCAD. We herein report a neonate with a diagnosis of VLCAD whose...

Related Keywords

yenidoğan Hellp sendromu VLCAD deficiency neonate Hellp syndrome