Journal of Inborn Errors of Metabolism and Screening: Sage Journals

Journal of Inborn Errors of Metabolism and Screening journal cover

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
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 accessReview articleFirst published 2018
Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II
Anneliese L. BarthDafne D. G. Horovitz
Open accessResearch articleFirst published 2018
Mutation Spectrum and Genotype–Phenotype Correlation in a Cohort of Argentine Patients with Ornithine Transcarbamylase Deficiency: A Single-Center Experience
Laura E. LaróvereORCIDSilene M. Silvera RuizJosé A. Arranz
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Open accessEditorialFirst published 2018
The Role of Hyperhomocysteinemia in Disease
Carmen R. VargasAngela SittaMoacir Wajner

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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

Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II

Mutation Spectrum and Genotype–Phenotype Correlation in a Cohort of Argentine Patients with Ornithine Transcarbamylase Deficiency: A Single-Center Experience

The Role of Hyperhomocysteinemia in Disease