Diagnosis of Methylmalonic Acidemia from Dried Blood Spots by HPLC and Intramolecular-Excimer Fluorescence Derivatization
Author(s) -
Osama Y. Al-Dirbashi,
Minnie Jacob,
Zuhair N. AlHassnan,
Fahad El-Badaoui,
Mohamed S. Rashed
Publication year - 2004
Publication title -
clinical chemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.705
H-Index - 218
eISSN - 1530-8561
pISSN - 0009-9147
DOI - 10.1373/clinchem.2004.040022
Subject(s) - methylmalonic acidemia , methylmalonic acid , derivatization , chemistry , newborn screening , chromatography , methylmalonic aciduria , dried blood spot , hyperglycinemia , high performance liquid chromatography , vitamin b12 , medicine , biochemistry , glycine , amino acid
Blood Spots by HPLC and Intramolecular-Excimer Fluorescence Derivatization, Osama Y. Al-Dirbashi, Minnie Jacob, Zuhair Al-Hassnan, Fahad El-Badaoui, and Mohamed S. Rashed (Departments of 1 Genetics and 2 Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; * address correspondence to this author at: Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia; fax 966-1-442-4546, e-mail rashed@kfshrc.edu.sa)
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