Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.

Koeberl, Dwight D

Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. [electronic resource] - Pediatric research Aug 2003 - 219-23 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

0031-3998

10.1203/01.PDR.0000074972.36356.89 doi


Butyryl-CoA Dehydrogenase--deficiency
Carnitine--analogs & derivatives
Cells, Cultured
Fibroblasts--cytology
Humans
Infant, Newborn
Mass Spectrometry
Metabolism, Inborn Errors--diagnosis
Neonatal Screening--methods
Oxidoreductases Acting on CH-CH Group Donors--deficiency