Detection of gene defects in branched-chain amino acid metabolism by tandem mass spectrometry of carnitine esters produced by cultured fibroblasts.

Methods in enzymology2000Roe CR, Roe DS

Study designOther primary literature

SubjectHuman

Abstract

cc by 以外（cc by-nc / cc by-nc-nd / NONE 等）は抄録を再掲しない。DOI/PMID へのリンクのみ表示する。

Amino Acid Metabolism, Inborn ErrorsAmino Acids, Branched-ChainCarnitineCells, CulturedEstersFibroblastsHumansMass Spectrometry

DOI 10.1016/s0076-6879(00)24251-1

PMID 10989450