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Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 02/2018, Volume 20, Issue 2, pp. 282 - 282
This corrects the article DOI: 10.1038/gim.2017.84. 
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 12/2017, Volume 122, Issue 4, pp. 156 - 159
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Methods in molecular biology (Clifton, N.J.), 2019, Volume 2030, p. 85
Quantitative amino acid analysis has diverse applications in clinical diagnostics, biomedical research, and agriculture. Liquid chromatography-tandem mass... 
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Genetics in Medicine, ISSN 1098-3600, 02/2008, Volume 10, Issue 2, pp. 151 - 156
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Clinical Chemistry, ISSN 0009-9147, 04/2011, Volume 57, Issue 4, pp. 548 - 549
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Nature, ISSN 0028-0836, 11/2017, Volume 551, Issue 7682, pp. 648 - 652
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Medical Science Educator, ISSN 2156-8650, 3/2019, Volume 29, Issue 1, pp. 87 - 92
Despite the growing number of patients worldwide with metabolism-related chronic diseases, medical biochemistry education is commonly perceived as focusing on... 
Education | Memorization | Assessment | Cognitive load | Medical Education | Biochemistry | Metabolism
Journal Article
Journal Article
Clinical Chemistry, ISSN 0009-9147, 04/2011, Volume 57, Issue 4, p. 545
  An inherent limitation of the Hitachi L-8800 amino acid system-and platforms based on liquid chromatography and spectrophotometry in general-is that analyte... 
Proteins | Metabolites | Amino acids | Mutation | Chromatography
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PLoS ONE, ISSN 1932-6203, 06/2014, Volume 9, Issue 6, p. e100001
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Genetics in Medicine, ISSN 1098-3600, 10/2017, Volume 19, Issue 10, pp. 1079 - 1079
Disclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality... 
biotinidase deficiency | multiple carboxylase deficiency | technical standards and guidelines | newborn screening | clinical genetic testing | Medical screening | Laboratories | Standards
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JOURNAL OF CLINICAL MEDICINE, ISSN 2077-0383, 05/2017, Volume 6, Issue 5, p. 50
Technical advances in the ability to measure mitochondrial dysfunction are providing new insights into mitochondrial disease pathogenesis, along with new tools... 
OXIDATIVE STRESS | glutathione | EPI-743 | mitochondrial disease | N-acetylcysteine | WHOLE-BLOOD | MEDICINE, GENERAL & INTERNAL | redox imbalance | MONITOR PROGRESSION | cysteamine | MULTIPLE OXPHOS DEFICIENCY | YOUNG-RATS | FULMINANT HEPATIC-FAILURE | RP103 | METHYLMALONIC ACIDURIA | FRIEDREICH ATAXIA | PARKINSONS-DISEASE
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Journal of Pediatrics, The, ISSN 0022-3476, 2016, Volume 181, pp. 80 - 85.e1
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Journal Article