Sage Journals: Discover world-class research

Open access

Research article

First published 2010-6

Neonatal Seizures: When to Consider and How to Investigate for an Inborn Error of Metabolism

Derrick Wei Shih Chan, Ee Shien Tan, Maureen Anne Cleary

Proceedings of Singapore Healthcare

Open access

Review article

First published 2018

High-Risk Screening and Diagnosis of Inborn Errors of Metabolism

Gabriel Civallero, Raquel de Kremer, Roberto Giugliani

Journal of Inborn Errors of Metabolism and Screening

Open access

Research article

First published 2020-04-13

Practical recommendations for the transition to adulthood for the adolescent with a genetic diagnosis. Special emphasis on inborn errors of metabolism

Mauricio De Castro, Clesson Turner, Brian Kirmse

Translational Science of Rare Diseases

Retricted access

Case report

First published 2025-2-20

An inborn error of metabolism presenting with apparently isolated subacute neuropsychiatric symptoms in an adolescent

Sarah Grace Engel, Ali Said Al-Beshri, Amitha Ananth [...]

Translational Science of Rare Diseases

Retricted access

Research article

First published 2025

Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations

Ersida Buraniqi, Hsuan-Tung Lee, Kuntal Sen [...]

Journal of Child Neurology

Open access

Research article

First published 2020-04-13

Elements of genetic counseling for inborn errors of metabolism

Natalie Beck, Carolyn Applegate

Translational Science of Rare Diseases

Free access

Research article

First published 2015-12

Cost-benefit analysis: Newborn screening for inborn errors of metabolism in Lebanon

I Khneisser, S Adib, S Assaad [...]

Journal of Medical Screening

Free access

Research article

First published 2021-9

Incidence of inborn errors of metabolism detected by tandem mass spectrometry in China: A census of over seven million newborns between 2016 and 2017

Kui Deng, Jun Zhu, Erling Yu [...]

Journal of Medical Screening

Free access

Other

First published 2014

Inborn Errors of Intermediary Metabolism in Critically Ill Mexican Newborns

Ibarra-González Isabel, Fernández-Lainez Cynthia, Reyes-González Diana [...]

Journal of Inborn Errors of Metabolism and Screening

Retricted access

Research article

First published 2022-6

A Study of Sick Newborn for Inborn Error of Metabolism by Tandem Mass Spectrometry

Rahul Bhautara, Kamlesh Kumar Agarwal, Ashok Gupta [...]

Journal of Neonatology

Search results