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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 2021

Treosulfan-based conditioning for inborn errors of immunity

Mary A. Slatter, Andrew R. Gennery

Therapeutic Advances in Hematology

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

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

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

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

Retricted access

Research article

First published 2015-6

Inborn Errors in Immunity

N.M. Moutsopoulos, M.S. Lionakis, G. Hajishengallis

Journal of Dental Research

Retricted access

Research article

First published 2019-1

Electron Microscopy Can Still Have a Role in the Diagnosis of Selected Inborn Errors of Metabolism

Mana Taweevisit, Paul S Thorner

Pediatric and Developmental Pathology

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