Mass Spectrometry but Not Fluorometry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease
Liao, Hsuan-Chieh, Chan, Min-Ju, Yang, Chia-Feng, Chiang, Chuan-Chi, Niu, Dau-Ming, Huang, Chun-Kai, Gelb, Michael H.Langue:
english
Journal:
Clinical Chemistry
DOI:
10.1373/clinchem.2016.269027
Date:
April, 2017
Fichier:
PDF, 334 KB
english, 2017