β-Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine
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چکیده
منابع مشابه
Aminoacylase I deficiency: a novel inborn error of metabolism.
This is the first report of a patient with aminoacylase I deficiency. High amounts of N-acetylated amino acids were detected by gas chromatography-mass spectrometry in the urine, including the derivatives of serine, glutamic acid, alanine, methionine, glycine, and smaller amounts of threonine, leucine, valine, and isoleucine. NMR spectroscopy confirmed these findings and, in addition, showed th...
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Objective: Although metabolic diseases individually are rare ,but overall have an incidence of 1/2000 and can cause devastating and irreversible effect if not diagnosed early and treated promptly. selective screening is an acceptable method for detection of these multi presentation diseases.Method: using panel neonatal screening for detection of metabolic diseases in 650 high risk Iranian patie...
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Salt-induced Hypertension in Rats The history of NaCl-induced hypertension in rats is given iby Meneely and 'Dahl (1961). In our laboratory iwe now have two strains of white Sprague-Dawley rats, both with fairly predictable prognosis relative to the development of hypertension, (Dahl, Heine and Tassinari, 1962). They are called R (for Resistant) and S (for Sensitive), and if chronically fed the...
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ژورنال
عنوان ژورنال: Magnetic Resonance in Medicine
سال: 2001
ISSN: 0740-3194
DOI: 10.1002/mrm.1289