Quantitative Determination of Branched-Chain Amino Acids in Dried Blood Spot Samples by LC-MSMS and its Application in Diagnosis and Follow-Up of Chilean Patients with Maple Syrup Urine Disease
نویسندگان
چکیده
منابع مشابه
application and construction of carbon paste modified electrodes developed for determination of metal ions in some real samples
ساخت الکترودهاِی اصلاح شده ِیکِی از چالشهاِی همِیشگِی در دانش شیمِی بوِیژه شیمِی تجزیه مِی باشد ،که با در نظر گرفتن سادگِی ساخت، کاربردی بودن و ارزان بودن روش مِی توان به باارزش بودن چنِین سنسورهاِی پِی برد.آنچه که در ادامه آورده شده به ساخت و کاربرد الکترودهاِی اصلاح شده با استفاده از نانو ذرات در اندازه گِیرِی ولتامترِی آهن وکادمِیم اشاره دارد. کار اول اختصاص دارد به ساخت الکترود خمِیر کربن اصلاح شده با لِیگاند داِ...
15 صفحه اولSecond-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).
BACKGROUND Newborn screening for maple syrup urine disease (MSUD) relies on finding increased concentrations of the branched-chain amino acids (BCAAs) leucine, isoleucine, and valine by tandem mass spectrometry (MS/MS). d-Alloisoleucine (allo-Ile) is the only pathognomonic marker of MSUD, but it cannot be identified by existing screening methods because it is not differentiated from isobaric am...
متن کاملTotal branched-chain amino acids requirement in patients with maple syrup urine disease by use of indicator amino acid oxidation with L-[1-C]phenylalanine
Roya Riazi, Mahroukh Rafii, Joe T. R. Clarke, Linda J. Wykes, Ronald O. Ball, and Paul B. Pencharz Departments of Nutritional Sciences and Paediatrics, University of Toronto, Toronto M5S 3E2; The Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 1X8; School of Dietetics & Human Nutrition, McGill University, Ste-Anne-de-Bellevue, Quebec H9X 3V9; and Department of Agricultu...
متن کاملTotal branched-chain amino acids requirement in patients with maple syrup urine disease by use of indicator amino acid oxidation with L-[1-13C]phenylalanine.
Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by defects in the mitochondrial multienzyme complex branched-chain alpha-keto acid dehydrogenase (BCKD; EC 1.2.4.4), responsible for the oxidative decarboxylation of the branched-chain ketoacids (BCKA) derived from the branched-chain amino acids (BCAA) leucine, valine, and isoleucine. Deficiency of the enzyme results in ...
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ژورنال
عنوان ژورنال: Journal of Inborn Errors of Metabolism and Screening
سال: 2021
ISSN: 2326-4594
DOI: 10.1590/2326-4594-jiems-2021-0005