Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening
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DOI: 10.1016/j.ymgmr.2018.05.003
Abstract: Background Expanded newborn screening (ENBS) utilizing tandem mass spectrometry (MS/MS) for inborn metabolic diseases (IMDs), such as organic acidemias (OAs), fatty acid oxidation disorders, (FAODs), and amino acid disorders (AAs), is increasingly popular but has… read more here.
Keywords: incidence; asian countries; enbs; organic acidemias ... See more keywords
The markers of the organic acidemias and their ratios in healthy neonates in Serbian population
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DOI: 10.1515/dmpt-2021-0218
Abstract: Abstract Objectives The newborn screening (NBS) program in the Republic of Serbia has several decades of tradition, but it has not included any organic acidemias (OA). Therefore, this study aimed to establish the cut-offs of… read more here.
Keywords: c5dc; cut offs; serbian population; organic acidemias ... See more keywords
Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism
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DOI: 10.1515/jpem-2021-0780
Abstract: Abstract Objectives Neonatal-onset organic acidemias (OAs) account for 80% of neonatal intensive care unit (NICU) admissions due to inborn errors of metabolism. The aim of this study is to analyze clinical features and follow-up of… read more here.
Keywords: referral center; inborn errors; errors metabolism; organic acidemias ... See more keywords
Nutrient Intake and Nutritional Status in Adult Patients with Inherited Metabolic Diseases Treated with Low-Protein Diets: A Review on Urea Cycle Disorders and Branched Chain Organic Acidemias
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DOI: 10.3390/nu12113331
Abstract: Low-protein diets (LPDs) are the main treatment for urea cycle disorders (UCDs) and organic acidemias (OAs). In most cases, LPDs start in childhood and must be continued into adulthood. The improved life expectancy of patients… read more here.
Keywords: status; status adult; nutritional status; organic acidemias ... See more keywords