Diagnosis of Methylmalonic Acidemia from Dried Blood Spots by HPLC and Intramolecular-Excimer Fluorescence Derivatization-Reference-Cited by-同舟云学术

Diagnosis of Methylmalonic Acidemia from Dried Blood Spots by HPLC and Intramolecular-Excimer Fluorescence Derivatization

Published:2005-01-01 Issue:1 Volume:51 Page:235-237
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

Al-Dirbashi Osama Y¹,Jacob Minnie¹,Al-Hassnan Zuhair¹,El-Badaoui Fahad¹,Rashed Mohamed S¹¹

Affiliation:

1. Departments of Genetics and Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

Publisher

Oxford University Press (OUP)

Subject

Biochemistry, medical,Clinical Biochemistry

Link

http://academic.oup.com/clinchem/article-pdf/51/1/235/32682136/clinchem0235.pdf

Reference7 articles.

1. Fenton WA, Gravel RA, Rosenblatt DS. Disorders of propionate and methylmalonate metabolism. Scriver D Beaudet A Valle D Sly W eds. The metabolic bases of inherited disease2001:2165-93 McGraw-Hill Health Professions Division New York. .

2. Oberholzer VG, Levin B, Burgess EA, Young WF. Methylmalonic aciduria: an inborn error of metabolism leading to chronic metabolic acidosis. Arch Dis Child1967;42:492-504.

3. Rashed MS. Clinical applications of tandem mass spectrometry: ten years of diagnosis and screening for inherited metabolic diseases. J Chromatogr B2001;758:27-48.

4. Zytkovicz TH, Fitzgerald EF, Marsden D, Larson C, Shih V, Johnson DH, et al. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England newborn screening program. Clin Chem2001;47:1945-1955.

5. Rashed MS, Ozand PT, Bucknall MP, Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res1995;38:324-331.

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