Rapid screening of classic galactosemia patients: a proof-of-concept study using high-throughput FTIR analysis of plasma
Author:
Affiliation:
1. Université de Reims Champagne-Ardenne
2. Equipe MéDIAN
3. Biophotonique et Technologies pour la Santé
4. UFR de Pharmacie
5. 51096 Reims
6. Biochimie – Hôpital de Bicêtre
7. Hôpitaux Universitaires Paris-Sud
8. France
Abstract
FTIR as a new approach to screen a rare disease.
Publisher
Royal Society of Chemistry (RSC)
Subject
Electrochemistry,Spectroscopy,Environmental Chemistry,Biochemistry,Analytical Chemistry
Link
http://pubs.rsc.org/en/content/articlepdf/2015/AN/C4AN01942C
Reference38 articles.
1. Structure and Function of Enzymes of the Leloir Pathway for Galactose Metabolism
2. J. M. Saudubray , G.Berghe and J. H.Walter, Inborn metabolic diseases, Springer, New-York, 2012
3. Clinical features of galactokinase deficiency:A review of the literature
4. Epimerase-Deficiency Galactosemia Is Not a Binary Condition
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