Work

Identification of 19 Pathogenic Variants in a Clinically Heterogeneous Cohort With Suspected Inborn Errors of Metabolism

Year: 2026

Type: article

Study design: Observational Study

Source: Clinical Genetics

DOI: 10.1111/cge.70172

Authors: Sumreena Mansoor, Sabeen Abid, Muhammad Imran, Munir Iqbal malik, Qamar Ali, Shanawaz hussain, Hafiz Asim Ali, Yasser Masood, Shehla Choudhry, Raheel Qamar, Maleeha Azam

Institutions: COMSATS University Islamabad, Shifa Tameer-e-Millat University, Shifa International Hospital, Pakistan Academy of Sciences

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7154152574

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Cites: 22

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