Work

Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders

Year: 2026

Type: article

Study design: Observational Study

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2026.109763

Authors: Stephen G. Kaler, Lalitha Venkataraman, Minh T. Pham, Benjamin J. Kennedy, Mohammad Marhabaie, Daniel C. Koboldt

Institutions: Nationwide Children's Hospital, Abigail Wexner Research Institute, Columbia University

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: green

Funders: National Institutes of Health, National Institute of Neurological Disorders and Stroke

Award: Viral Gene Therapy for Menkes Disease

OpenAlex ID: W7128362535

FWCI: 9.199

Cites: 21

Cited by: 2

Related to: 10