Work

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

Year: 2008

Type: article

Study design: Observational Study

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2008.06.002

Authors: S.E. Waisbren, H.L. Levy, M. Noble, D. Matern, N. Gregersen, K. Pasley, D. Marsden

Institutions: Boston Children's Hospital, Harvard University, Mayo Clinic, Aarhus University Hospital

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: Sundhed og Sygdom, Det Frie Forskningsråd, U.S. Public Health Service, National Human Genome Research Institute

Awards: G2828648028, G2926705702, Expanded Newborn Screening for Metabolic Disorders

OpenAlex ID: W1965419553

FWCI: 5.762

Cites: 46

Cited by: 66

Related to: 10