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Research article

First published 2023-12

Incidence of Inborn Errors of Metabolism in Newborn Infants: Five Years’ Single-Center Experience,Jeddah,Saudi Arabia

Mansour Al Qurashi, Shima Alahmadi, Ahmed Mustafa [...]

Clinical Pediatrics

Open access

Research article

First published 2025

Early Mortalities From Inborn Errors of Metabolism Detected By Selective Screening in Malaysia

Anasufiza Habib, Nur Aisyah Abdul Malik, Azzah Hana Abu Yamin [...]

Sage Open Pediatrics

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

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Research article

First published 2013-05

A Genome-Scale Modeling Approach to Study Inborn Errors of Liver Metabolism: Toward an In Silico Patient

Roberto Pagliarini, Diego di Bernardo

Journal of Computational Biology

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Case report

First published 2025-11

Amplitude-integrated Electroencephalography in a Neonate with Isovaleric Acidaemia: A Case Report

Raffaele Falsaperla, Carla Cimino, Michela Spatuzza [...]

Journal of Neonatology

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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

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Research article

First published 2012-05

Identification of Mutations Underlying 20 Inborn Errors of Metabolism in the United Arab Emirates Population

Imen Ben-Rebeh, Jozef L. Hertecant, Fatma A. Al-Jasmi [...]

Genetic Testing and Molecular Biomarkers

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

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Other

First published 2012-12

Routine Metabolic Testing is Not Warranted in Unexpected Infant Death Investigations

Evan W. Matshes, Leslie E. Hamilton

Academic Forensic Pathology

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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

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