Work

Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith–Lemli–Opitz syndrome (SLOS)

Year: 2007

Type: article

Study design: Observational Study

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.31901

Authors: Cedric H.L. Shackleton, Josep Marcos, Glenn E. Palomaki, Wendy Y. Craig, Richard I. Kelley, Lisa E. Kratz, James E. Haddow

Institutions: Brown University, Women & Infants Hospital of Rhode Island, Foundation for Blood Research, Kennedy Krieger Institute, Johns Hopkins 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: closed

Funders: National Institutes of Health, National Institute of Child Health and Human Development, National Center for Research Resources, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G3410030367, G3852308731, Gas chromatograph-mass spectrometer with EI and CI, FEASIBILITY OF PRENATAL SCREENING FOR SLO SYNDROME

OpenAlex ID: W2017672241

FWCI: 2.182

Cites: 19

Cited by: 46

Related to: 10