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The Journal of Inborn Errors of Metabolism and Screening (JIEMS) is an online peer-reviewed open access journal devoted to publishing clinical and experimental research in inherited metabolic disorders and screening, for health professionals and scientists. Original research articles published in JIEMS range from basic findings that have implications for disease pathogenesis and therapy, passing t...|View full journal description

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Articles most recently published online for this journal.

Open accessResearch articleFirst published 2019-01-01
Toward a Core Outcome Set for Head,Neck,and Respiratory Disease in Mucopolysaccharidosis Type II: Systematic Literature Review and Assessment of Heterogeneity in Outcome Reporting
Aleksandra MetrykaNailah BrownJean Mercer
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Open accessEditorialFirst published 2018-01-01
The Role of Hyperhomocysteinemia in Disease
Carmen R. VargasAngela SittaMoacir Wajner
Open accessResearch articleFirst published 2018-01-01
A New Phe-Free Protein Substitute Engineered to Allow a Physiological Absorption of Free Amino Acids for Phenylketonuria
Nadia GiarratanaGuglielmo GallinaValentina Panzeri
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Open accessResearch articleFirst published 2018-01-01
Overview of Approaches to Mitochondrial Disease Therapy
Diana LehmannRobert McFarland

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Toward a Core Outcome Set for Head,Neck,and Respiratory Disease in Mucopolysaccharidosis Type II: Systematic Literature Review and Assessment of Heterogeneity in Outcome Reporting

The Role of Hyperhomocysteinemia in Disease

A New Phe-Free Protein Substitute Engineered to Allow a Physiological Absorption of Free Amino Acids for Phenylketonuria

Overview of Approaches to Mitochondrial Disease Therapy